ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4756-97G>A

gnomAD frequency: 0.24285  dbSNP: rs8103699
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000839860 SCV000981768 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001554642 SCV001775914 benign Developmental and epileptic encephalopathy, 42 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554643 SCV001775915 benign Episodic ataxia type 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554644 SCV001775916 benign Migraine, familial hemiplegic, 1 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554645 SCV001775917 benign Spinocerebellar ataxia type 6 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000839860 SCV005315274 benign not provided criteria provided, single submitter not provided

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