ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.584C>T (p.Thr195Met)

gnomAD frequency: 0.00014  dbSNP: rs552776147
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000796733 SCV000936258 likely benign Hereditary insensitivity to pain with anhidrosis 2024-01-27 criteria provided, single submitter clinical testing
Mendelics RCV000796733 SCV001135443 uncertain significance Hereditary insensitivity to pain with anhidrosis 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352226 SCV002648420 likely benign Inborn genetic diseases 2023-05-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV000796733 SCV002086523 uncertain significance Hereditary insensitivity to pain with anhidrosis 2019-11-11 no assertion criteria provided clinical testing

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