ClinVar Miner

Submissions for variant NM_000340.2(SLC2A2):c.491_493del (p.Tyr164del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003136762 SCV003825667 uncertain significance Fanconi-Bickel syndrome 2022-07-04 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003136762 SCV005374174 uncertain significance Fanconi-Bickel syndrome 2024-09-22 criteria provided, single submitter clinical testing

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