ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.1730G>T (p.Gly577Val) (rs6339)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712454 SCV000842951 benign not provided 2017-10-05 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
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.
GeneReviews RCV000031916 SCV000054554 benign Hereditary insensitivity to pain with anhidrosis 2008-08-05 no assertion criteria provided curation Converted during submission to Benign.
Illumina Clinical Services Laboratory,Illumina RCV000031916 SCV000349060 likely benign Hereditary insensitivity to pain with anhidrosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000031916 SCV000626950 benign Hereditary insensitivity to pain with anhidrosis 2017-08-08 criteria provided, single submitter clinical testing
OMIM RCV000013101 SCV000033348 pathogenic Familial medullary thyroid carcinoma 1999-08-01 no assertion criteria provided literature only

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