ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5625+50CTT[4]

dbSNP: rs143245670
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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 RCV001554520 SCV001775774 benign Developmental and epileptic encephalopathy, 42 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554521 SCV001775775 benign Episodic ataxia type 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554522 SCV001775776 benign Migraine, familial hemiplegic, 1 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554523 SCV001775777 benign Spinocerebellar ataxia type 6 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001685523 SCV001897163 benign not provided 2019-08-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594358 SCV005087279 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 94% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 87. Only high quality variants are reported.

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