ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.195C>T (p.Phe65=)

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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 RCV002942960 SCV003275416 likely benign Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2023-12-12 criteria provided, single submitter clinical testing

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