ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr)

gnomAD frequency: 0.00591  dbSNP: rs62640939
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000712456 SCV000527790 likely benign not provided 2019-09-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26215504)
Labcorp Genetics (formerly Invitae), Labcorp RCV001084241 SCV000752389 benign Hereditary insensitivity to pain with anhidrosis 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712456 SCV000842953 benign not provided 2017-10-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001084241 SCV001256267 benign Hereditary insensitivity to pain with anhidrosis 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001084241 SCV002048511 likely benign Hereditary insensitivity to pain with anhidrosis 2023-11-22 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001084241 SCV004016482 likely benign Hereditary insensitivity to pain with anhidrosis 2023-07-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001084241 SCV004048785 likely benign Hereditary insensitivity to pain with anhidrosis 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000712456 SCV005262299 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001084241 SCV002090074 benign Hereditary insensitivity to pain with anhidrosis 2019-12-16 no assertion criteria provided clinical testing

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