ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys) (rs114684479)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000307965 SCV000331874 likely benign not specified 2015-09-04 criteria provided, single submitter clinical testing
GeneDx RCV000307965 SCV000565486 likely benign not specified 2017-11-08 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.
Genetic Services Laboratory, University of Chicago RCV000307965 SCV000596763 likely benign not specified 2015-09-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000540494 SCV000614865 likely benign not provided 2018-12-27 criteria provided, single submitter clinical testing
Invitae RCV001085073 SCV000656285 likely benign Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000540494 SCV001155205 uncertain significance not provided 2017-01-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001161946 SCV001323867 benign Norman-Roberts syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656002 SCV000588278 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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