ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.348G>A (p.Pro116=)

gnomAD frequency: 0.00009  dbSNP: rs145734697
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 RCV001494886 SCV001699552 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501700 SCV002813521 likely benign Renal tubular acidosis with progressive nerve deafness 2021-11-02 criteria provided, single submitter clinical testing

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