ClinVar Miner

Submissions for variant NM_015386.3(COG4):c.1290C>A (p.Tyr430Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005017749 SCV005644369 likely pathogenic COG4-congenital disorder of glycosylation; Microcephalic osteodysplastic dysplasia, Saul-Wilson type 2024-03-27 criteria provided, single submitter clinical testing

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