ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.2560+43G>A

gnomAD frequency: 0.96851  dbSNP: rs4836615
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001537468 SCV001754353 benign not provided 2018-06-25 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000147616 SCV005087385 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 78% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 73. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001537468 SCV005322374 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000147616 SCV000195065 likely benign not specified no assertion criteria provided clinical testing

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