ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.195C>A (p.Ile65=)

dbSNP: rs375489300
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603127 SCV000726176 likely benign not specified 2018-01-05 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000975457 SCV001123342 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498951 SCV002806663 likely benign Renal tubular acidosis with progressive nerve deafness 2021-11-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892365 SCV004716233 likely benign ATP6V1B1-related disorder 2020-12-15 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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