ClinVar Miner

Submissions for variant NM_006180.6(NTRK2):c.31G>T (p.Ala11Ser)

gnomAD frequency: 0.00051  dbSNP: rs78936193
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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) RCV000735072 SCV000863265 uncertain significance not provided 2018-09-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816809 SCV002065073 benign not specified 2017-08-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000735072 SCV002377488 likely benign not provided 2023-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918227 SCV004732295 likely benign NTRK2-related disorder 2021-10-04 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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