ClinVar Miner

Submissions for variant NM_001080442.3(SLC38A8):c.698A>G (p.Glu233Gly)

dbSNP: rs2085112203
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Inherited Eye Disorders lab, UCL Institute of Ophthalmology RCV001270482 SCV001450776 likely pathogenic Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 2020-12-16 no assertion criteria provided clinical testing

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