ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.851-30C>A

gnomAD frequency: 0.00028  dbSNP: rs552893549
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001548374 SCV001768271 likely benign not provided 2019-01-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826396 SCV002086539 benign Hereditary insensitivity to pain with anhidrosis 2019-10-22 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003910867 SCV004723941 benign NTRK1-related disorder 2019-08-06 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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