ClinVar Miner

Submissions for variant NM_170699.3(GPBAR1):c.636C>T (p.Ser212=)

gnomAD frequency: 0.00199  dbSNP: rs150118963
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731728 SCV000859577 likely benign not specified 2018-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000888275 SCV001031902 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000888275 SCV004151365 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing GPBAR1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000888275 SCV005258825 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003928237 SCV004745543 likely benign GPBAR1-related disorder 2019-03-08 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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