ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1556-93T>A

gnomAD frequency: 0.29227  dbSNP: rs10407951
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000837751 SCV000979611 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.
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004597892 SCV005091762 benign not specified 2024-07-31 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 26% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 24. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV000837751 SCV005315307 benign not provided criteria provided, single submitter not provided

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