ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.367+20A>T

dbSNP: rs1572919684
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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 RCV002185423 SCV002359304 likely benign not provided 2023-10-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507894 SCV002810107 likely benign Renal tubular acidosis with progressive nerve deafness 2021-08-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002185423 SCV005257017 likely benign not provided criteria provided, single submitter not provided

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