ClinVar Miner

Submissions for variant NM_024079.5(ALG8):c.824G>A (p.Gly275Asp)

dbSNP: rs121908294
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002496234 SCV002813873 likely pathogenic ALG8 congenital disorder of glycosylation; Polycystic liver disease 3 with or without kidney cysts 2022-01-12 criteria provided, single submitter clinical testing
OMIM RCV000002672 SCV000022830 pathogenic ALG8 congenital disorder of glycosylation 2004-07-01 no assertion criteria provided literature only

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