ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1987-98C>T

gnomAD frequency: 0.99241  dbSNP: rs4926263
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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 RCV001554768 SCV001776074 benign Developmental and epileptic encephalopathy, 42 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554769 SCV001776075 benign Episodic ataxia type 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554770 SCV001776076 benign Migraine, familial hemiplegic, 1 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554771 SCV001776077 benign Spinocerebellar ataxia type 6 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001676062 SCV001894552 benign not provided 2018-06-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001676062 SCV005315299 benign not provided criteria provided, single submitter not provided

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