ClinVar Miner

Submissions for variant NM_001098484.3(SLC4A4):c.831del (p.Lys277fs)

dbSNP: rs1553913019
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000656732 SCV001429251 pathogenic Autosomal recessive proximal renal tubular acidosis 2019-12-10 criteria provided, single submitter clinical testing This variant was identified as homozygous
Institute of Human Genetics, Cologne University RCV000656732 SCV000778454 likely pathogenic Autosomal recessive proximal renal tubular acidosis no assertion criteria provided clinical testing

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