ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.105C>T (p.Ser35=)

gnomAD frequency: 0.00012  dbSNP: rs139540641
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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 RCV000876859 SCV001019490 likely benign Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2025-01-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392670 SCV004133952 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing STIM1: BP4, BP7

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