ClinVar Miner

Submissions for variant NM_018297.4(NGLY1):c.1722A>G (p.Gln574=)

gnomAD frequency: 0.00138  dbSNP: rs74650888
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703665 SCV000520729 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
Invitae RCV000552256 SCV000654075 benign Congenital disorder of deglycosylation 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001703665 SCV004149319 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing NGLY1: BP4, BP7

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