ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3256-9G>A

gnomAD frequency: 0.00001  dbSNP: rs1294455750
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774900 SCV002004214 uncertain significance not provided 2019-04-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV003772075 SCV004573707 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-12-27 criteria provided, single submitter clinical testing

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