ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs1443883930
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761256 SCV000891213 likely pathogenic Autosomal recessive distal renal tubular acidosis 2018-07-19 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000761256 SCV000923557 uncertain significance Autosomal recessive distal renal tubular acidosis 2019-01-01 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV001849435 SCV002106688 pathogenic Distal renal tubular acidosis 2019-10-22 no assertion criteria provided literature only

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