ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.867C>T (p.Asn289=)

gnomAD frequency: 0.00004  dbSNP: rs375801783
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423397 SCV000514565 likely benign not specified 2016-11-03 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.
Invitae RCV001396579 SCV001598312 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-07-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446655 SCV002683368 likely benign Inborn genetic diseases 2018-02-28 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.

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