ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.3839G>A (p.Gly1280Glu)

gnomAD frequency: 0.01176  dbSNP: rs55689103
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081231 SCV000113139 benign not specified 2013-06-21 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000081231 SCV000310789 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000081231 SCV000514394 benign not specified 2016-03-25 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.
Athena Diagnostics Inc RCV000710199 SCV000614867 likely benign not provided 2017-12-11 criteria provided, single submitter clinical testing
Invitae RCV001080013 SCV000656290 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001160302 SCV001322092 benign Norman-Roberts syndrome 2017-04-27 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.
Genetic Services Laboratory, University of Chicago RCV000081231 SCV000152498 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Clinical Genetics, Academic Medical Center RCV000710199 SCV001922884 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000081231 SCV001974144 benign not specified no assertion criteria provided clinical testing

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