ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2896del (p.Glu966fs)

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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 RCV002474311 SCV002770817 likely pathogenic not provided 2022-03-08 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org).

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