ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.537C>T (p.Arg179=)

gnomAD frequency: 0.00003  dbSNP: rs545034098
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001503732 SCV001708590 likely benign not provided 2023-09-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506582 SCV002804474 likely benign Renal tubular acidosis with progressive nerve deafness 2022-02-07 criteria provided, single submitter clinical testing

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