ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.2205+10G>A

gnomAD frequency: 0.00002  dbSNP: rs368713268
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001280011 SCV001613059 likely benign Hereditary insensitivity to pain with anhidrosis 2023-12-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280011 SCV001467156 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-04-18 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003953624 SCV004772410 likely benign NTRK1-related disorder 2019-04-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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