ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=)

gnomAD frequency: 0.00035  dbSNP: rs374452942
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246214 SCV000312083 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725683 SCV000338581 uncertain significance not provided 2016-01-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000636573 SCV000758012 benign Early infantile epileptic encephalopathy with suppression bursts 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000725683 SCV001859348 benign not provided 2020-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429188 SCV002744175 benign Inborn genetic diseases 2020-01-28 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.

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