ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4950+96A>C

gnomAD frequency: 0.97758  dbSNP: rs16039
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554524 SCV001775778 benign Developmental and epileptic encephalopathy, 42 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554525 SCV001775779 benign Episodic ataxia type 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554526 SCV001775780 benign Migraine, familial hemiplegic, 1 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554527 SCV001775781 benign Spinocerebellar ataxia type 6 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001615322 SCV001834157 benign not provided 2018-06-25 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594359 SCV005087543 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 59% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 55. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001615322 SCV005315270 benign not provided criteria provided, single submitter not provided

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