ClinVar Miner

Submissions for variant NC_000011.10:g.(?_3856251)_(4091818_?)del

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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 RCV000823248 SCV000964099 pathogenic Myopathy, tubular aggregate, 1; Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency 2018-09-25 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the STIM1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with STIM1-related disease. Loss-of-function variants in STIM1 are known to be pathogenic (PMID: 19420366, 20876309). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001388224 SCV001589116 pathogenic Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2018-09-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in STIM1 are known to be pathogenic (PMID: 19420366, 20876309). This variant has not been reported in the literature in individuals with STIM1-related disease. A gross deletion of the genomic region encompassing the full coding sequence of the STIM1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes.

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