ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.507C>T (p.Val169=)

gnomAD frequency: 0.00178  dbSNP: rs140488516
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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 RCV000874646 SCV001016845 benign Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938343 SCV004754595 likely benign STIM1-related disorder 2019-07-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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