ClinVar Miner

Submissions for variant NM_024740.2(ALG9):c.789+11T>G

gnomAD frequency: 0.00010  dbSNP: rs371939356
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002141134 SCV002466974 likely benign ALG9 congenital disorder of glycosylation 2023-11-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500322 SCV002812573 likely benign ALG9 congenital disorder of glycosylation; Gillessen-Kaesbach-Nishimura syndrome 2022-02-09 criteria provided, single submitter clinical testing

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