ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.659G>A (p.Arg220Gln)

gnomAD frequency: 0.00009  dbSNP: rs540751200
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700548 SCV000829307 likely benign Hereditary insensitivity to pain with anhidrosis 2024-01-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002263945 SCV002544330 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing NTRK1: BP4
Genome-Nilou Lab RCV000700548 SCV004048678 likely benign Hereditary insensitivity to pain with anhidrosis 2023-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026517 SCV004993360 likely benign Inborn genetic diseases 2023-11-09 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. RCV000700548 SCV001454767 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-09-16 no assertion criteria provided clinical testing

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