ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.1441C>T (p.Leu481=)

gnomAD frequency: 0.21998  dbSNP: rs16850131
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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) RCV000081470 SCV000113401 benign not specified 2013-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513085 SCV001720621 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001513085 SCV001871889 benign not provided 2020-01-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807028 SCV002054545 benign Developmental and epileptic encephalopathy, 62 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807027 SCV002054546 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 RCV000081470 SCV005087855 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 32% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 30. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001513085 SCV005239576 benign not provided criteria provided, single submitter not provided

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