ClinVar Miner

Submissions for variant NM_024740.2(ALG9):c.1794C>T (p.Tyr598=)

gnomAD frequency: 0.00238  dbSNP: rs77191760
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697846 SCV000526105 likely benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000647915 SCV000769721 benign ALG9 congenital disorder of glycosylation 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502540 SCV002813220 likely benign ALG9 congenital disorder of glycosylation; Gillessen-Kaesbach-Nishimura syndrome 2021-07-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001697846 SCV005219242 likely benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV001697846 SCV005330371 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing ALG9: BP4, BP7

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