ClinVar Miner

Submissions for variant NM_001098484.3(SLC4A4):c.2774G>A (p.Arg925His)

dbSNP: rs1736599400
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758450 SCV001995371 uncertain significance not provided 2021-02-11 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002488577 SCV002783883 uncertain significance Autosomal recessive proximal renal tubular acidosis 2022-02-16 criteria provided, single submitter clinical testing

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