ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.399+1G>C

dbSNP: rs2060983144
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288842 SCV001476228 likely pathogenic not provided 2020-05-15 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality.

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