ClinVar Miner

Submissions for variant NM_018297.4(NGLY1):c.132-14T>C

gnomAD frequency: 0.04444  dbSNP: rs77109827
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175901 SCV000227472 benign not specified 2014-12-23 criteria provided, single submitter clinical testing
GeneDx RCV000175901 SCV000520689 benign not specified 2015-12-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001511609 SCV001718884 benign Congenital disorder of deglycosylation 2024-02-01 criteria provided, single submitter clinical testing

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