ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.123-3367G>A (rs1007211)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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.
Invitae RCV001081416 SCV000626973 likely benign Hereditary insensitivity to pain with anhidrosis 2020-12-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001081416 SCV000885864 benign Hereditary insensitivity to pain with anhidrosis 2020-06-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000757575 SCV001147474 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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.
Nilou-Genome Lab RCV001081416 SCV001653482 likely benign Hereditary insensitivity to pain with anhidrosis 2021-05-18 criteria provided, single submitter clinical testing

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