ClinVar Miner

Submissions for variant NM_170699.3(GPBAR1):c.528C>T (p.Pro176=)

gnomAD frequency: 0.00004  dbSNP: rs202154681
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593864 SCV000706572 uncertain significance not provided 2017-02-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900337 SCV004713004 likely benign GPBAR1-related disorder 2021-07-13 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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