ClinVar Miner

Submissions for variant NM_182916.3(TRNT1):c.482-3dup

gnomAD frequency: 0.00017  dbSNP: rs766154756
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480794 SCV000569910 likely benign not specified 2016-11-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000945612 SCV001091648 likely benign Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 2024-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551587 SCV004770026 likely benign TRNT1-related disorder 2019-07-18 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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