ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.2231G>A (p.Arg744Gln) (rs35669708)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224279 SCV000281189 likely benign not provided 2016-01-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000236228 SCV000292641 benign not specified 2017-09-18 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.
Invitae RCV000545651 SCV000626963 benign Hereditary insensitivity to pain with anhidrosis 2020-11-23 criteria provided, single submitter clinical testing
Counsyl RCV000545651 SCV000790135 likely benign Hereditary insensitivity to pain with anhidrosis 2017-03-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000224279 SCV000842954 benign not provided 2018-02-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000545651 SCV001256268 uncertain significance Hereditary insensitivity to pain with anhidrosis 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000545651 SCV001472919 benign Hereditary insensitivity to pain with anhidrosis 2019-10-09 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000545651 SCV001652868 likely benign Hereditary insensitivity to pain with anhidrosis 2021-05-18 criteria provided, single submitter clinical testing

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.