ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5941-205T>C

gnomAD frequency: 0.76943  dbSNP: rs2419233
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554512 SCV001775766 benign Developmental and epileptic encephalopathy, 42 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554513 SCV001775767 benign Episodic ataxia type 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554514 SCV001775768 benign Migraine, familial hemiplegic, 1 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554515 SCV001775769 benign Spinocerebellar ataxia type 6 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001655899 SCV001867681 benign not provided 2018-06-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655899 SCV005314817 benign not provided criteria provided, single submitter not provided

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