ClinVar Miner

Submissions for variant NM_001374385.1(ATP8B1):c.2358G>A (p.Val786=)

gnomAD frequency: 0.00052  dbSNP: rs33965008
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176211 SCV000227826 uncertain significance not provided 2017-10-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000176211 SCV001087479 likely benign not provided 2024-03-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004552980 SCV004785628 likely benign ATP8B1-related disorder 2021-11-19 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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