ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.375C>T (p.Asn125=)

gnomAD frequency: 0.00005  dbSNP: rs757803799
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000274129 SCV000349039 uncertain significance Hereditary insensitivity to pain with anhidrosis 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000274129 SCV001016796 likely benign Hereditary insensitivity to pain with anhidrosis 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365331 SCV002625911 likely benign Inborn genetic diseases 2019-07-11 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. RCV000274129 SCV002086514 likely benign Hereditary insensitivity to pain with anhidrosis 2020-01-30 no assertion criteria provided clinical testing

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