ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=)

dbSNP: rs555793953
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176751 SCV000228460 likely benign not specified 2014-11-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000359420 SCV000379752 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001084759 SCV000557001 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713152 SCV000843731 benign not provided 2017-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317026 SCV000850056 likely benign Inborn genetic diseases 2016-10-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000713152 SCV001944483 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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