ClinVar Miner

Submissions for variant NM_170699.3(GPBAR1):c.157TTC[1] (p.Phe54del)

dbSNP: rs767819043
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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) RCV000597791 SCV000706571 likely benign not specified 2017-02-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915725 SCV004731068 benign GPBAR1-related disorder 2019-09-19 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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