ClinVar Miner

Submissions for variant NM_020632.3(ATP6V0A4):c.1312_1315del (p.Asp438fs)

dbSNP: rs1806006713
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Yale Center for Mendelian Genomics, Yale University RCV001849706 SCV002106689 pathogenic Distal renal tubular acidosis 2019-10-22 no assertion criteria provided literature only

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