ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5141G>A (p.Gly1714Asp)

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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 RCV003482614 SCV004229465 uncertain significance not provided 2023-08-14 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 predict that this variant is damaging.

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