ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.4028G>A (p.Arg1343Gln)

gnomAD frequency: 0.00002  dbSNP: rs1295882768
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332288 SCV001524548 uncertain significance Spinocerebellar ataxia type 42 2020-05-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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