Submissions for variant NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro)

gnomAD frequency: 0.00083  dbSNP: rs146970674

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000515006	SCV000224593	uncertain significance	not provided	2017-10-20	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000515006	SCV000610123	likely benign	not provided	2017-02-17	criteria provided, single submitter	clinical testing
Invitae	RCV000515006	SCV001012585	likely benign	not provided	2024-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000515006	SCV001888336	benign	not provided	2020-04-23	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Observed in 0.0831% (233/280288 alleles) in large population cohorts (Lek et al., 2016)
CeGaT Center for Human Genetics Tuebingen	RCV000515006	SCV002545218	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	MAGEL2: BP4, BS1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000515006	SCV001800422	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000515006	SCV001918656	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000515006	SCV001930443	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000515006	SCV001969908	likely benign	not provided		no assertion criteria provided	clinical testing