ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6937CAG[7] (p.Gln2320_Gln2325del)

dbSNP: rs16054
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001649856 SCV001867361 benign not provided 2021-06-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533)
Fulgent Genetics, Fulgent Genetics RCV002477868 SCV002800258 benign Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2021-07-19 criteria provided, single submitter clinical testing

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