ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.1474+17C>G

gnomAD frequency: 0.89391  dbSNP: rs2289570
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247807 SCV000309453 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000247807 SCV000516303 benign not specified 2015-10-19 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 RCV001511968 SCV001719294 benign Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808691 SCV002057220 benign Combined immunodeficiency due to STIM1 deficiency 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808692 SCV002057221 benign Myopathy, tubular aggregate, 1 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808693 SCV002057222 benign Stormorken syndrome 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000247807 SCV004233599 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 98% of patients studied by a panel of primary immunodeficiencies. Number of patients: 93. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004718134 SCV005321448 benign not provided criteria provided, single submitter not provided

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