Submissions for variant NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser)

gnomAD frequency: 0.00040  dbSNP: rs760039339

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173472	SCV000224590	uncertain significance	not provided	2016-08-29	criteria provided, single submitter	clinical testing
Invitae	RCV000173472	SCV001059847	likely benign	not provided	2023-09-28	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV003137703	SCV003808240	uncertain significance	Schaaf-Yang syndrome	2022-12-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004639160	SCV005131462	likely benign	Inborn genetic diseases	2024-03-30	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000173472	SCV001798861	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000173472	SCV001927361	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000173472	SCV001968992	likely benign	not provided		no assertion criteria provided	clinical testing