ClinVar Miner

Submissions for variant NM_152713.5(STT3A):c.1775-8dup

dbSNP: rs750373548
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001710936 SCV001938596 benign not provided 2020-10-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503165 SCV002806130 likely benign STT3A-congenital disorder of glycosylation; Congenital disorder of glycosylation, type Iw, autosomal dominant 2022-01-14 criteria provided, single submitter clinical testing

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