ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1442-8T>C

gnomAD frequency: 0.00212  dbSNP: rs181761096
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174539 SCV000225857 likely benign not specified 2014-11-22 criteria provided, single submitter clinical testing
GeneDx RCV001704253 SCV000531865 likely benign not provided 2021-04-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000653062 SCV000774936 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2025-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001162037 SCV001323966 likely benign Norman-Roberts syndrome 2018-01-13 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.
Fulgent Genetics, Fulgent Genetics RCV002485126 SCV002800396 likely benign Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2021-10-16 criteria provided, single submitter clinical testing

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