Submissions for variant NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)

gnomAD frequency: 0.03696  dbSNP: rs6336

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000030674	SCV000349059	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	RCV000030674	SCV000626949	benign	Hereditary insensitivity to pain with anhidrosis	2024-02-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000592514	SCV000705487	benign	not specified	2017-03-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712453	SCV000842950	benign	not provided	2017-10-05	criteria provided, single submitter	clinical testing
Mendelics	RCV000030674	SCV001135448	likely benign	Hereditary insensitivity to pain with anhidrosis	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000030674	SCV001158856	benign	Hereditary insensitivity to pain with anhidrosis	2023-11-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000030674	SCV001748594	benign	Hereditary insensitivity to pain with anhidrosis	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000712453	SCV001856598	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27884173, 10330344, 21228398, 20981092, 19435634, 11719521, 18780967, 11159935, 22995991, 20003389)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000592514	SCV002050913	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000712453	SCV005262296	likely benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000013100	SCV000033347	pathogenic	Familial medullary thyroid carcinoma	1999-08-01	no assertion criteria provided	literature only
GeneReviews	RCV000030674	SCV000040901	not provided	Hereditary insensitivity to pain with anhidrosis		no assertion provided	literature only
Natera, Inc.	RCV000030674	SCV001463407	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	RCV000592514	SCV001743876	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000592514	SCV001924706	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000712453	SCV001927894	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000592514	SCV001960072	benign	not specified		no assertion criteria provided	clinical testing