ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6570del (p.Cys2191fs)

dbSNP: rs760298114
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776949 SCV002013941 uncertain significance not provided 2023-04-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Frameshift variant predicted to result in protein truncation as the last 163 amino acids are replaced with 25 different amino acids

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