ClinVar Miner

Submissions for variant NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) (rs1443883930)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000761256 SCV000923557 uncertain significance Renal tubular acidosis, distal, autosomal recessive 2019-01-01 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory,M Health: University of Minnesota RCV000761256 SCV000891213 likely pathogenic Renal tubular acidosis, distal, autosomal recessive 2018-07-19 criteria provided, single submitter clinical testing

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