ClinVar Miner

Submissions for variant NM_019109.5(ALG1):c.22C>T (p.Leu8=)

gnomAD frequency: 0.00001  dbSNP: rs144712188
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000973737 SCV001121508 benign ALG1-congenital disorder of glycosylation 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000973737 SCV002810788 likely benign ALG1-congenital disorder of glycosylation 2021-12-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003411920 SCV004141048 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing ALG1: BP4, BP7

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