ClinVar Miner

Submissions for variant NM_002529.3(NTRK1):c.16C>T (p.Arg6Trp) (rs201472270)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755590 SCV000604570 uncertain significance not provided 2017-11-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000220958 SCV000856552 benign not specified 2017-09-13 criteria provided, single submitter clinical testing
GeneDx RCV000220958 SCV000279129 likely benign not specified 2018-01-18 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 RCV000299635 SCV000349034 uncertain significance Hereditary insensitivity to pain with anhidrosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000299635 SCV000626947 likely benign Hereditary insensitivity to pain with anhidrosis 2017-12-26 criteria provided, single submitter clinical testing
Mendelics RCV000708804 SCV000837790 uncertain significance Familial medullary thyroid carcinoma 2018-07-02 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000299635 SCV000803490 likely benign Hereditary insensitivity to pain with anhidrosis 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Likely Benign, for Insensitivity to pain, congenital, with anhidrosis, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BP5 =>Variant found in a case with an alternate molecular basis for disease (PMID:22302274). BS1-Supporting => BS1 downgraded in strength to supporting.

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