ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2903del (p.Gly968fs)

dbSNP: rs1555755926
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599266 SCV000710186 pathogenic not provided 2023-04-03 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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