ClinVar Miner

Submissions for variant NM_002529.3(NTRK1):c.2339G>A (p.Arg780Gln) (rs35669708)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000224279 SCV000842954 benign not provided 2018-02-02 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224279 SCV000281189 likely benign not provided 2016-01-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Counsyl RCV000545651 SCV000790135 likely benign Hereditary insensitivity to pain with anhidrosis 2017-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000236228 SCV000292641 benign not specified 2017-09-18 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.
Invitae RCV000545651 SCV000626963 benign Hereditary insensitivity to pain with anhidrosis 2018-01-03 criteria provided, single submitter clinical testing

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