ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.516C>G (p.Thr172=)

dbSNP: rs2133104553
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002190164 SCV002353669 likely benign Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2021-11-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004598177 SCV005092565 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing STIM1: PM2:Supporting, BP4, BP7

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