ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)

gnomAD frequency: 0.03698  dbSNP: rs6339
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127263 SCV000170823 benign not specified 2014-05-23 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.
Illumina Laboratory Services, Illumina RCV000031916 SCV000349060 likely benign 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000031916 SCV000626950 benign Hereditary insensitivity to pain with anhidrosis 2024-02-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000127263 SCV000705486 benign not specified 2017-03-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712454 SCV000842951 benign not provided 2017-10-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000031916 SCV001156846 benign Hereditary insensitivity to pain with anhidrosis 2023-11-28 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000031916 SCV001440804 benign Hereditary insensitivity to pain with anhidrosis 2019-01-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000031916 SCV001737340 benign Hereditary insensitivity to pain with anhidrosis 2021-06-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000127263 SCV002050916 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000712454 SCV005262297 likely benign not provided criteria provided, single submitter not provided
OMIM RCV000013101 SCV000033348 pathogenic Familial medullary thyroid carcinoma 1999-08-01 no assertion criteria provided literature only
GeneReviews RCV000031916 SCV000054554 not provided Hereditary insensitivity to pain with anhidrosis no assertion provided literature only
Natera, Inc. RCV000031916 SCV001463408 benign Hereditary insensitivity to pain with anhidrosis 2020-04-17 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000127263 SCV001741910 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000127263 SCV001920438 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000712454 SCV001930241 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000127263 SCV001958620 benign not specified no assertion criteria provided clinical testing

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