ClinVar Miner

Submissions for variant NM_006180.6(NTRK2):c.330A>G (p.Ala110=)

gnomAD frequency: 0.00014  dbSNP: rs201225877
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002077953 SCV002324215 benign not provided 2024-10-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002077953 SCV005331401 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing NTRK2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003893106 SCV004713378 likely benign NTRK2-related disorder 2020-10-19 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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