ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.7590C>A (p.Asn2530Lys)

gnomAD frequency: 0.00004  dbSNP: rs766869538
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595058 SCV000707758 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing
Invitae RCV000693507 SCV000821378 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-01-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001270771 SCV001451523 uncertain significance Norman-Roberts syndrome 2019-02-21 criteria provided, single submitter clinical testing The RELN c.7590C>A (p.Asn2530Lys) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is found at a frequency of 0.000174 in the Latino population the Genome Aggregation Database. Based on the limited evidence, the p.Asn2530Lys variant is classified as a variant of uncertain significance for lissencephaly 2.
Mayo Clinic Laboratories, Mayo Clinic RCV000595058 SCV004224059 uncertain significance not provided 2023-02-08 criteria provided, single submitter clinical testing BP4, PM2

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.