ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.45T>C (p.Ser15=)

gnomAD frequency: 0.00002  dbSNP: rs1045132687
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001499530 SCV001704294 likely benign not provided 2023-10-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495758 SCV002801690 likely benign Renal tubular acidosis with progressive nerve deafness 2021-11-21 criteria provided, single submitter clinical testing

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