ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.7391C>T (p.Ser2464Leu)

dbSNP: rs1171910645
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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 RCV002263141 SCV002546073 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing CACNA1A: PM2, PP2, PP3, BP5

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