ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.6078C>T (p.Asn2026=) (rs79610081)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000195125 SCV000248708 benign not specified 2016-09-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000615435 SCV000465942 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000195125 SCV000518211 likely benign not specified 2016-10-03 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 RCV001082791 SCV000656329 benign Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712915 SCV000843469 benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000615435 SCV000734536 likely benign Norman-Roberts syndrome no assertion criteria provided clinical testing

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