Submissions for variant NM_019066.5(MAGEL2):c.1286C>T (p.Pro429Leu)

gnomAD frequency: 0.00353  dbSNP: rs2233061

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724119	SCV000224589	uncertain significance	not provided	2014-10-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000173471	SCV000595674	likely benign	not specified	2017-10-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000724119	SCV001005516	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000724119	SCV001785873	likely benign	not provided	2019-10-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724119	SCV002497740	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	MAGEL2: BS1, BS2
Ambry Genetics	RCV002516588	SCV003705255	likely benign	Inborn genetic diseases	2022-03-28	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.