ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.393G>A (p.Lys131=)

gnomAD frequency: 0.00001  dbSNP: rs1332086842
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000977778 SCV001125699 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001276709 SCV002809553 likely benign Renal tubular acidosis with progressive nerve deafness 2022-02-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276709 SCV001463233 uncertain significance Renal tubular acidosis with progressive nerve deafness 2020-01-24 no assertion criteria provided clinical testing

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