ClinVar Miner

Submissions for variant NM_002529.3(NTRK1):c.360-2A>C (rs797045059)

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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 RCV000191113 SCV000245517 pathogenic Hereditary insensitivity to pain with anhidrosis 2014-06-10 criteria provided, single submitter clinical testing This splice site variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory in trans with a missense variant [R347P] in a 28-year-old female with anhidrosis, neuropathy, orthostatic hypotension, ptosis, hyperextensible joints, multiple fractures

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