ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.1779G>T (p.Gly593=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003808955 SCV004596501 likely benign Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2023-06-20 criteria provided, single submitter clinical testing

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