ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.1138-9T>C

gnomAD frequency: 0.05004  dbSNP: rs58461583
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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 RCV000242522 SCV000309449 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000242522 SCV000516485 benign not specified 2016-05-11 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 RCV000526292 SCV000634526 benign Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718133 SCV005321442 benign not provided criteria provided, single submitter not provided

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