ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.950G>C (p.Arg317Pro) (rs797045060)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000191114 SCV000245518 likely pathogenic Hereditary insensitivity to pain with anhidrosis 2014-06-10 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory in trans with a pathogenic variant [c.360-2A>C] in a 28-year-old female with anhidrosis, neuropathy, orthostatic hypotension, ptosis, hyperextensible joints, multiple fractures

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