ClinVar Miner

Submissions for variant NM_019109.4(ALG1):c.1025A>C (p.Gln342Pro) (rs267606651)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004990 SCV000025166 pathogenic Congenital disorder of glycosylation type 1K 2004-03-01 no assertion criteria provided literature only

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