ClinVar Miner

Submissions for variant NM_015386.3(COG4):c.494A>G (p.Tyr165Cys)

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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 RCV005017750 SCV005644371 uncertain significance COG4-congenital disorder of glycosylation; Microcephalic osteodysplastic dysplasia, Saul-Wilson type 2024-04-29 criteria provided, single submitter clinical testing

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