ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4326C>A (p.Tyr1442Ter)

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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 RCV004997594 SCV005621380 likely pathogenic not provided 2024-01-24 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org)

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