ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6051-1G>A

dbSNP: rs2144525222
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001581445 SCV001812236 likely pathogenic not provided 2021-01-25 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease AND Non-canonical splice site variant demonstrated to result in loss-of-function (ref); Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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