ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.167+5G>A

dbSNP: rs1557585860
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005834 SCV000026016 pathogenic ALG6-congenital disorder of glycosylation 1C 2000-07-01 no assertion criteria provided literature only

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