ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser) (rs73714410)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000370216 SCV000465910 likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000118175 SCV000514402 benign not specified 2015-09-23 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000515078 SCV000610848 likely benign not provided 2017-04-19 criteria provided, single submitter clinical testing
Invitae RCV001084364 SCV000656381 benign Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000515078 SCV000843481 benign not provided 2019-05-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000118175 SCV000152531 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.

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