ClinVar Miner

Submissions for variant NM_001080442.3(SLC38A8):c.116del (p.Gly39fs)

dbSNP: rs2151131708
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733534 SCV001984079 pathogenic Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 2020-11-16 criteria provided, single submitter clinical testing

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