ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.1604C>T (p.Thr535Met)

gnomAD frequency: 0.00267  dbSNP: rs146873551
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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 RCV001082603 SCV000634535 benign Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000838668 SCV000980546 likely benign not provided 2021-04-24 criteria provided, single submitter clinical testing

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