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Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline<i>FH</i>variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancer

2025-03-19

Abstract excerpt

<h4>Purpose</h4> Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a rare cancer susceptibility syndrome exclusively attributable to pathogenic variants in FH . This paper quantitatively weights the phenotypic context (PP4/PS4) of such very rare variants in FH . <h4>Methods</h4> We collated clinical diagnostic testing data on germline FH variants from 387 individuals with HLRCC and 1,780 individuals with...

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Literature Corpus work
820f3987-263d-5582-aa82-d982c7af3b9c
DOI
10.1101/2025.03.17.25324088
Open publication

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Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline<i>FH</i>variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancerDOI 10.1101/2025.03.17.25324088
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