ClinVar Miner

Submissions for variant NM_000111.2(SLC26A3):c.2024_2026dup (p.Ile675dup) (rs121913031)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000049397 SCV001137438 pathogenic Congenital secretory diarrhea, chloride type 2019-05-28 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198914 SCV001369909 pathogenic Atrial septal defect; Failure to thrive; Polyhydramnios; Diarrhea; Premature birth; Hyperactive renin-angiotensin system; Hypokalemia; Hyponatremia; Hypochloremia; Increased circulating cortisol level; Abdominal distention; Metabolic alkalosis 2020-03-18 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,BP4. This variant was detected in heterozygous state.
OMIM RCV000049397 SCV000038522 pathogenic Congenital secretory diarrhea, chloride type 2008-03-28 no assertion criteria provided literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049397 SCV000081830 probable-pathogenic Congenital secretory diarrhea, chloride type no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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