ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.1239-13C>T

gnomAD frequency: 0.00426  dbSNP: rs115353673
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252869 SCV000309451 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000842447 SCV000984468 likely benign not provided 2018-04-23 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001509684 SCV001716522 benign Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2025-01-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000842447 SCV005223211 likely benign not provided criteria provided, single submitter not provided

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