ClinVar Miner

Submissions for variant NM_002529.3(NTRK1):c.53G>A (p.Gly18Glu) (rs1007211)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757575 SCV000885864 benign not provided 2017-07-18 criteria provided, single submitter clinical testing
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 RCV000526174 SCV000626973 likely benign Hereditary insensitivity to pain with anhidrosis 2017-12-27 criteria provided, single submitter clinical testing

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