ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) (rs121917956)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000188822 SCV000203494 likely benign not specified 2017-04-05 criteria provided, single submitter clinical testing
GeneDx RCV000188822 SCV000242451 likely benign not specified 2017-11-06 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,PreventionGenetics RCV000188822 SCV000307039 likely benign not specified 2016-02-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290730 SCV000417765 likely benign Familial hemiplegic migraine type 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000348035 SCV000417766 likely benign Epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000059450 SCV000511255 likely benign not provided 2016-09-14 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001083992 SCV000559697 benign Early infantile epileptic encephalopathy 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000059450 SCV000780681 likely benign not provided 2018-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718206 SCV000849068 likely benign History of neurodevelopmental disorder 2018-03-05 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign)
Mendelics RCV000986868 SCV001136013 benign Severe myoclonic epilepsy in infancy 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001133026 SCV001292712 likely benign Generalized epilepsy with febrile seizures plus, type 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
UniProtKB/Swiss-Prot RCV000059450 SCV000090975 not provided not provided no assertion provided not provided

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