ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1187T>C (p.Ile396Thr)

dbSNP: rs2058520222
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251916 SCV001427662 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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