ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4250+4G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV003482612 SCV004229461 uncertain significance not provided 2022-10-18 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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