ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6028C>T (p.Gln2010Ter)

dbSNP: rs1355062450
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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 RCV000516955 SCV000612560 pathogenic not provided 2023-05-05 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). This variant has been identified in at least one individual with clinical features associated with this gene.

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