ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4941dup (p.Glu1648Ter)

dbSNP: rs2056193902
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
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 RCV001311177 SCV001501248 likely pathogenic not provided 2020-12-01 criteria provided, single submitter clinical testing

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