ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.6C>T (p.Ala2=)

gnomAD frequency: 0.00001  dbSNP: rs1553415239
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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 RCV001437901 SCV001640767 likely benign not provided 2023-09-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826255 SCV002079074 likely benign Renal tubular acidosis with progressive nerve deafness 2021-10-07 no assertion criteria provided clinical testing

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