ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3692+1G>A (rs1315533129)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710953 SCV000841268 pathogenic not provided 2017-10-16 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197888 SCV001368671 uncertain significance Familial hemiplegic migraine type 1 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PVS1.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000710953 SCV001447018 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV001328546 SCV001519690 likely pathogenic Episodic ataxia type 2 2019-08-27 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001264752 SCV001442987 likely pathogenic Epileptic encephalopathy, early infantile, 42 2020-08-14 no assertion criteria provided clinical testing

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