ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val)

gnomAD frequency: 0.00001  dbSNP: rs764115258
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000703318 SCV000832215 benign Early infantile epileptic encephalopathy with suppression bursts 2023-12-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763861 SCV000894795 uncertain significance Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343547 SCV002654323 likely benign Inborn genetic diseases 2017-09-18 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796288 SCV005418844 uncertain significance Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2 criteria provided, single submitter clinical testing PM2_Supporting

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