ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2310_2337dup (p.Glu780delinsGlnValArgValGlyAlaAlaAspGlnTer)

dbSNP: rs1057520154
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000440018 SCV000511450 pathogenic not provided 2016-08-29 criteria provided, single submitter clinical testing

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