ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.585+7C>G

gnomAD frequency: 0.00006  dbSNP: rs369075264
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001500785 SCV001705585 likely benign not provided 2023-11-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495763 SCV002800676 likely benign Renal tubular acidosis with progressive nerve deafness 2022-03-22 criteria provided, single submitter clinical testing

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