ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3324dup (p.Ile1109fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004719563 SCV005325896 pathogenic not provided 2024-02-08 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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