ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.7007C>T (p.Pro2336Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV003120365 SCV003798449 benign Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003143589 SCV003828813 uncertain significance not provided 2021-12-29 criteria provided, single submitter clinical testing

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