ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4828_4829del (p.Leu1610fs)

dbSNP: rs2056443833
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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 RCV001311178 SCV001501250 pathogenic not provided 2021-01-01 criteria provided, single submitter clinical testing

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