ClinVar Miner

Submissions for variant NM_006416.5(SLC35A1):c.*240G>T

gnomAD frequency: 0.01462  dbSNP: rs9450722
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000399424 SCV000465719 uncertain significance Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304439 SCV000484280 likely benign Pontoneocerebellar hypoplasia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001536155 SCV001752875 benign not provided 2021-03-17 criteria provided, single submitter clinical testing

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