Submissions for variant NM_022114.4(PRDM16):c.1426C>T (p.Pro476Ser)

gnomAD frequency: 0.00131  dbSNP: rs188908415

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000221460	SCV000269721	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Pro476Ser in exon 9 of PRDM16: This variant is not expected to have clinical sig nificance because it has been identified in 3.4% (6/176) of Yoruba (Nigerian) ch romosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.n lm.nih.gov/projects/SNP; dbSNP rs188908415).
Invitae	RCV000474106	SCV000556965	benign	Left ventricular noncompaction 8	2024-01-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001705189	SCV000731095	likely benign	not provided	2021-02-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001705189	SCV004700187	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	PRDM16: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV003929877	SCV004743515	benign	PRDM16-related condition	2019-11-14	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).