ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3882+2T>C

dbSNP: rs2057168559
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268681 SCV001447792 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Solve-RD Consortium RCV004769987 SCV005091509 likely pathogenic Developmental and epileptic encephalopathy, 42 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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