Submissions for variant NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu)

gnomAD frequency: 0.00957  dbSNP: rs1007211

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173175	SCV000224268	benign	not specified	2016-04-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000173175	SCV000513992	benign	not specified	2016-04-05	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081416	SCV000626973	likely benign	Hereditary insensitivity to pain with anhidrosis	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001081416	SCV000885864	benign	Hereditary insensitivity to pain with anhidrosis	2023-11-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000757575	SCV001147474	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	NTRK1: BS1, BS2
Illumina Laboratory Services, Illumina	RCV001081416	SCV001256073	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Genome-Nilou Lab	RCV001081416	SCV001653482	likely benign	Hereditary insensitivity to pain with anhidrosis	2021-05-18	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000173175	SCV002050914	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001081416	SCV004016478	benign	Hereditary insensitivity to pain with anhidrosis	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000757575	SCV005262282	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000757575	SCV001798354	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000173175	SCV001920530	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000173175	SCV001952612	benign	not specified		no assertion criteria provided	clinical testing