Submissions for variant NM_005450.6(NOG):c.275G>A (p.Gly92Glu)

gnomAD frequency: 0.00175  dbSNP: rs199566527

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000429229	SCV000511200	likely benign	not provided	2017-02-15	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455908	SCV000539930	uncertain significance	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Variant was identified as de novo in one individual with fibrodysplasia ossificans progressiva (Semonin 2001). 0.3% frequency too high for AD disease with high penetrance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000429229	SCV001118783	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000429229	SCV004145709	benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	NOG: BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000429229	SCV001799236	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000429229	SCV001975886	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530524	SCV004722649	likely benign	NOG-related disorder	2019-10-25	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).