ClinVar Miner

Submissions for variant NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter)

dbSNP: rs1584907924
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987978 SCV001137513 likely pathogenic Autosomal recessive distal renal tubular acidosis 2019-05-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505498 SCV002812765 likely pathogenic Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 2022-02-09 criteria provided, single submitter clinical testing

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