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

gnomAD frequency: 0.03698  dbSNP: rs6339

Total submissions: 17

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