ClinVar Miner

Submissions for variant NM_014140.3(SMARCAL1):c.2290C>T (p.Arg764Trp) (rs1480919035)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000586742 SCV000693913 uncertain significance Schimke immunoosseous dysplasia 2017-06-26 criteria provided, single submitter research No reports in the literature identified for this variant. Seen as homozygous variant in 1 case in CMG with nephrotic syndrome. PM2: rare in reference population databases with AC=1 in gnomAD. PP3: In silico predicts damaging.

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