ClinVar Miner

Submissions for variant NM_000340.2(SLC2A2):c.496+10A>T

gnomAD frequency: 0.00123  dbSNP: rs5403
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000967690 SCV001115097 likely benign Fanconi-Bickel syndrome 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711472 SCV005262922 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003960789 SCV004770613 likely benign SLC2A2-related disorder 2020-01-14 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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