ClinVar Miner

Submissions for variant NM_000340.2(SLC2A2):c.1269G>T (p.Val423=)

gnomAD frequency: 0.00007  dbSNP: rs191885528
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001502798 SCV001707635 likely benign Fanconi-Bickel syndrome 2023-11-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956115 SCV004777915 likely benign SLC2A2-related condition 2023-07-28 criteria provided, single submitter 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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