ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn)

dbSNP: rs2056767062
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001254122 SCV001430060 pathogenic Developmental and epileptic encephalopathy, 42 2020-04-01 criteria provided, single submitter clinical testing
Wendy Chung Laboratory, Columbia University Medical Center RCV002227260 SCV002506528 likely pathogenic Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 52 2022-03-20 criteria provided, single submitter clinical testing

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