ClinVar Miner

Submissions for variant NM_080916.3(DGUOK):c.142+9C>T

gnomAD frequency: 0.00097  dbSNP: rs377000908
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200016 SCV000251323 benign not specified 2014-08-06 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.
Eurofins Ntd Llc (ga) RCV000200016 SCV000332690 likely benign not specified 2016-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000874948 SCV001017198 benign not provided 2025-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947631 SCV004762532 likely benign DGUOK-related disorder 2019-11-11 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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