ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.254G>A (p.Arg85His)

gnomAD frequency: 0.00220  dbSNP: rs79678945
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705314 SCV000293561 likely benign not provided 2021-02-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26215504)
Eurofins Ntd Llc (ga) RCV000236816 SCV000339984 benign not specified 2016-03-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000861307 SCV001001580 likely benign Hereditary insensitivity to pain with anhidrosis 2024-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000236816 SCV001879824 likely benign not specified 2021-03-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000861307 SCV002048230 likely benign Hereditary insensitivity to pain with anhidrosis 2021-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436060 SCV002745081 likely benign Inborn genetic diseases 2019-11-06 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000861307 SCV004016483 benign Hereditary insensitivity to pain with anhidrosis 2023-07-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000861307 SCV004048634 likely benign Hereditary insensitivity to pain with anhidrosis 2023-04-11 criteria provided, single submitter clinical testing

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