ClinVar Miner

Submissions for variant NM_018297.4(NGLY1):c.1508G>A (p.Arg503His)

gnomAD frequency: 0.00150  dbSNP: rs139134926
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651489 SCV000773341 likely benign Congenital disorder of deglycosylation 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001584503 SCV001811324 likely benign not provided 2021-02-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25344691)
CeGaT Center for Human Genetics Tuebingen RCV001584503 SCV004185045 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing NGLY1: BP4

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