ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) (rs121917910)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000188828 SCV000152607 likely benign not specified 2019-07-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000118242 SCV000203498 uncertain significance not provided 2014-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000118242 SCV000242457 benign not provided 2019-06-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20729507, 18930999, 19522081, 28717674, 27881154, 26990884, 31765958, 32090326)
Invitae RCV001080063 SCV000758058 likely benign Early infantile epileptic encephalopathy with suppression bursts 2020-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717643 SCV000848497 likely benign History of neurodevelopmental disorder 2018-08-14 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification;Subpopulation frequency in support of benign classification
CeGaT Praxis fuer Humangenetik Tuebingen RCV000118242 SCV000892303 likely benign not provided 2018-04-01 criteria provided, single submitter clinical testing
Mendelics RCV000059407 SCV001136032 uncertain significance Severe myoclonic epilepsy in infancy 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001133131 SCV001292818 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001133132 SCV001292819 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
UniProtKB/Swiss-Prot RCV000059407 SCV000090931 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000118242 SCV001741044 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000118242 SCV001930148 likely benign not provided no assertion criteria provided clinical testing

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