ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4434del (p.Ser1479fs)

dbSNP: rs2056602254
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268389 SCV001447281 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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