ClinVar Miner

Submissions for variant NM_002529.3(NTRK1):c.1838G>T (p.Gly613Val) (rs6339)

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Total submissions: 8
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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 Clinical Services Laboratory,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.
Invitae RCV000031916 SCV000626950 benign Hereditary insensitivity to pain with anhidrosis 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000127263 SCV000705486 benign not specified 2017-03-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712454 SCV000842951 benign not provided 2017-10-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000127263 SCV001156846 benign not specified 2018-10-02 criteria provided, single submitter clinical testing
OMIM RCV000013101 SCV000033348 pathogenic Familial medullary thyroid carcinoma 1999-08-01 no assertion criteria provided literature only
GeneReviews RCV000031916 SCV000054554 benign Hereditary insensitivity to pain with anhidrosis 2008-08-05 no assertion criteria provided curation Converted during submission to Benign.

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