ClinVar Miner

Submissions for variant NM_170699.3(GPBAR1):c.857G>A (p.Arg286His)

gnomAD frequency: 0.00005  dbSNP: rs201573186
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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) RCV000729702 SCV000857388 uncertain significance not provided 2017-10-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953306 SCV004766695 likely benign GPBAR1-related disorder 2022-10-19 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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