ClinVar Miner

Submissions for variant NM_005660.3(SLC35A2):c.800A>G (p.Tyr267Cys)

dbSNP: rs869312860
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210405 SCV000258434 likely pathogenic SLC35A2-congenital disorder of glycosylation 2015-09-09 criteria provided, single submitter research This study shows that diverse genetic causes underlie CVI.

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