ClinVar Miner

Submissions for variant NM_170699.3(GPBAR1):c.903G>A (p.Gly301=)

gnomAD frequency: 0.00054  dbSNP: rs200857397
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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) RCV000734767 SCV000862936 likely benign not specified 2018-08-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965553 SCV004780777 benign GPBAR1-related disorder 2019-08-26 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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