ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.2547A>C (p.Val849=)

gnomAD frequency: 0.16330  dbSNP: rs62174900
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153905 SCV000203518 benign not specified 2014-03-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513084 SCV001720619 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001513084 SCV001897044 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807102 SCV002054541 benign Developmental and epileptic encephalopathy, 62 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807101 SCV002054542 benign Epilepsy, familial focal, with variable foci 4 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000153905 SCV005087806 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 35% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 33. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001513084 SCV005239568 benign not provided criteria provided, single submitter not provided

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