ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3717+1_3717+2insA

dbSNP: rs1555887068
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498202 SCV000589959 likely pathogenic not provided 2022-09-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown; This variant is associated with the following publications: (PMID: 30513141)

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