ClinVar Miner

Submissions for variant NM_003156.3(STIM1):c.1571C>T (p.Ser524Phe) (rs141215990)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224722 SCV000280852 uncertain significance not provided 2015-09-29 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000224722 SCV000970352 likely benign not provided 2018-08-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000553875 SCV000634537 benign Myopathy with tubular aggregates; Stormorken syndrome; Immune dysfunction with T-cell inactivation due to calcium entry defect 2 2017-12-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000243221 SCV000309455 likely benign not specified criteria provided, single submitter clinical testing

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