ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.861C>T (p.Arg287=)

gnomAD frequency: 0.00556  dbSNP: rs16929446
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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 RCV000540001 SCV000634556 benign Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001755823 SCV001985280 likely benign not provided 2021-04-15 criteria provided, single submitter clinical testing

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