ClinVar Miner

Submissions for variant NM_006416.5(SLC35A1):c.586G>A (p.Glu196Lys)

dbSNP: rs1554166844
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000578207 SCV000680080 pathogenic SLC35A1-congenital disorder of glycosylation 2018-02-01 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000578207 SCV001197906 likely pathogenic SLC35A1-congenital disorder of glycosylation no assertion criteria provided research

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