ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.435G>A (p.Leu145=)

gnomAD frequency: 0.00002  dbSNP: rs781880491
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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 RCV001439271 SCV001642156 likely benign not provided 2023-03-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501548 SCV002813599 likely benign Renal tubular acidosis with progressive nerve deafness 2021-12-06 criteria provided, single submitter clinical testing

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