ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.1810C>T (p.Arg604Trp) (rs777486535)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728382 SCV000855947 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197289 SCV001367939 uncertain significance Epicanthus; Inguinal hernia; Hypotelorism; Kyphoscoliosis; Almond-shaped palpebral fissure; Anteverted nares; Clinodactyly of the 5th finger; Frontal bossing; Premature birth; Protruding ear; Short 5th finger; Short philtrum; Synophrys; Low anterior hairline; Pectus carinatum; Hypertrophic cardiomyopathy; Phimosis; Coarse hair; Bilateral single transverse palmar creases; Prominent eyelashes; Neonatal asphyxia 2019-03-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3. This variant was detected in heterozygous state.

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.