ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.549C>A (p.Ile183=)

dbSNP: rs2104827670
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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 RCV002144697 SCV002420727 likely benign not provided 2022-11-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494313 SCV002796463 likely benign Renal tubular acidosis with progressive nerve deafness 2022-02-04 criteria provided, single submitter clinical testing

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