ClinVar Miner

Submissions for variant NM_002529.3(NTRK1):c.1810C>T (p.His604Tyr) (rs6336)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712453 SCV000842950 benign not provided 2017-10-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000592514 SCV000705487 benign not specified 2017-03-01 criteria provided, single submitter clinical testing
GeneReviews RCV000030674 SCV000040901 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 RCV000030674 SCV000349059 likely benign Hereditary insensitivity to pain with anhidrosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000030674 SCV000626949 benign Hereditary insensitivity to pain with anhidrosis 2017-08-08 criteria provided, single submitter clinical testing
OMIM RCV000013100 SCV000033347 pathogenic Familial medullary thyroid carcinoma 1999-08-01 no assertion criteria provided literature only

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