Submissions for variant NM_019066.5(MAGEL2):c.2290G>A (p.Ala764Thr)

gnomAD frequency: 0.00072  dbSNP: rs201984254

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	RCV000514999	SCV000610206	likely benign	not provided	2017-06-19	criteria provided, single submitter	clinical testing
Invitae	RCV000514999	SCV001005092	likely benign	not provided	2024-01-19	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821438	SCV002072372	benign	not specified	2017-11-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514999	SCV004129365	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	MAGEL2: BP4, BS1
Clinical Genetics, Academic Medical Center	RCV000514999	SCV001923884	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000514999	SCV001927703	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000514999	SCV001966177	likely benign	not provided		no assertion criteria provided	clinical testing