ClinVar Miner

Submissions for variant NM_024079.5(ALG8):c.673+4A>G

gnomAD frequency: 0.00003  dbSNP: rs1470636347
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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 RCV002496233 SCV002810293 likely pathogenic ALG8 congenital disorder of glycosylation; Polycystic liver disease 3 with or without kidney cysts 2022-03-16 criteria provided, single submitter clinical testing
OMIM RCV000002671 SCV000022829 pathogenic ALG8 congenital disorder of glycosylation 2004-07-01 no assertion criteria provided literature only

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