ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.231C>T (p.Ser77=)

gnomAD frequency: 0.00007  dbSNP: rs151191933
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 RCV001494897 SCV001699563 likely benign not provided 2023-11-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506570 SCV002808144 likely benign Renal tubular acidosis with progressive nerve deafness 2021-12-28 criteria provided, single submitter clinical testing

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