ClinVar Miner

Submissions for variant NM_000780.4(CYP7A1):c.1192C>G (p.Pro398Ala)

gnomAD frequency: 0.00290  dbSNP: rs142708991
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000368943 SCV000342559 likely benign not specified 2016-06-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000886346 SCV001029850 likely benign not provided 2025-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000886346 SCV004155826 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing CYP7A1: BS2
Mayo Clinic Laboratories, Mayo Clinic RCV000886346 SCV004224175 uncertain significance not provided 2022-09-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000886346 SCV005223595 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003940052 SCV004754289 likely benign CYP7A1-related disorder 2021-04-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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