ClinVar Miner

Submissions for variant NM_001012338.3(NTRK3):c.1665C>T (p.Ala555=)

gnomAD frequency: 0.00173  dbSNP: rs55799747
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000892674 SCV001036565 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910622 SCV004722294 likely benign NTRK3-related disorder 2019-08-01 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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