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: 3
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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
Invitae 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

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