ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.1378+10G>A

gnomAD frequency: 0.00011  dbSNP: rs782676816
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000914600 SCV001059782 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958370 SCV004771776 likely benign ATP6V1B1-related condition 2019-12-17 criteria provided, single submitter 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).
Natera, Inc. RCV001276712 SCV001463239 uncertain significance Renal tubular acidosis with progressive nerve deafness 2020-04-24 no assertion criteria provided clinical testing

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