ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1914-5T>C

dbSNP: rs2145002415
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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 RCV001433973 SCV001636771 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2020-10-08 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004998895 SCV005620785 uncertain significance not provided 2023-12-14 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org) Computational tools yielded predictions that this variant is unlikely to have an effect on normal RNA splicing.

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