ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2005C>T (p.Leu669Phe)

dbSNP: rs766470088
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001134704 SCV001294459 likely benign Seizures, benign familial infantile, 3 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV001221346 SCV001393386 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2022-09-07 criteria provided, single submitter clinical testing

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