ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) (rs147390654)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756654 SCV000884534 uncertain significance not provided 2017-08-09 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709888 SCV000840229 not provided Spherocytosis type 4; Renal tubular acidosis, distal, autosomal dominant; Renal tubular acidosis, distal, with hemolytic anemia no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000253978 SCV000540378 uncertain significance not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in one patient with spherocytosis (Van Zweiten 2013). MAF 0.5%.
PreventionGenetics RCV000253978 SCV000303741 likely benign not specified criteria provided, single submitter clinical testing

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