ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.1113+14T>A

gnomAD frequency: 0.21009  dbSNP: rs35369082
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127868 SCV000171451 benign not specified 2013-11-11 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.
PreventionGenetics, part of Exact Sciences RCV000127868 SCV000311095 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055786 SCV002347177 benign Progressive myoclonic epilepsy 2025-02-04 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000127868 SCV005087891 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 30% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 28. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004715736 SCV005298003 benign not provided criteria provided, single submitter not provided

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