ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.10G>A (p.Gly4Ser)

gnomAD frequency: 0.00173  dbSNP: rs556840308
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000346219 SCV000343867 uncertain significance not provided 2016-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085520 SCV000752386 likely benign Hereditary insensitivity to pain with anhidrosis 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429232 SCV002741039 likely benign Inborn genetic diseases 2019-09-26 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.
PreventionGenetics, part of Exact Sciences RCV003967790 SCV004782532 likely benign NTRK1-related disorder 2019-08-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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