ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.597C>A (p.Leu199=)

gnomAD frequency: 0.00015  dbSNP: rs189905382
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529839 SCV000634555 benign Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000613269 SCV000725007 likely benign not specified 2017-11-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Breakthrough Genomics, Breakthrough Genomics RCV004707321 SCV005223207 likely benign not provided criteria provided, single submitter not provided

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