ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.2079C>A (p.Gly693=)

gnomAD frequency: 0.00070  dbSNP: rs147912041
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000558877 SCV000634546 likely benign Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001703193 SCV004135808 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing STIM1: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703193 SCV001927388 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001703193 SCV001969031 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003935431 SCV004752455 likely benign STIM1-related disorder 2019-09-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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