ClinVar Miner

Submissions for variant NM_000786.4(CYP51A1):c.1309C>T (p.Pro437Ser)

gnomAD frequency: 0.00649  dbSNP: rs59683852
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002094918 SCV002388563 benign not provided 2024-01-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002094918 SCV004164301 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing CYP51A1: BS2; ENSG00000289027: BS2
Breakthrough Genomics, Breakthrough Genomics RCV002094918 SCV005269307 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003911335 SCV004722277 benign CYP51A1-related disorder 2019-03-01 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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