ClinVar Miner

Submissions for variant NM_000340.2(SLC2A2):c.1251G>A (p.Pro417=)

gnomAD frequency: 0.00010  dbSNP: rs371657103
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437213 SCV000530179 likely benign not specified 2016-08-03 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 RCV002063391 SCV002452187 likely benign Fanconi-Bickel syndrome 2023-04-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942422 SCV004761388 likely benign SLC2A2-related disorder 2021-03-30 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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