ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.814T>C (p.Cys272Arg)

dbSNP: rs1568569290
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762262 SCV000892555 likely pathogenic not provided 2018-04-01 criteria provided, single submitter clinical testing

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