ClinVar Miner

Submissions for variant NM_001374385.1(ATP8B1):c.2209+9T>C

gnomAD frequency: 0.00001  dbSNP: rs377124910
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614738 SCV000720098 likely benign not specified 2017-06-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000729464 SCV000857131 uncertain significance not provided 2017-09-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000729464 SCV004556993 likely benign not provided 2024-03-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547718 SCV004793009 likely benign ATP8B1-related disorder 2023-02-06 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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