Submissions for variant NM_022114.4(PRDM16):c.1684G>A (p.Val562Ile)

gnomAD frequency: 0.00159  dbSNP: rs150395260

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000223463	SCV000270752	likely benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Val562Ile in exon 9 of PRDM16: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (15/4006) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs150395260).
GeneDx	RCV001697184	SCV000530370	likely benign	not provided	2021-06-02	criteria provided, single submitter	clinical testing
Invitae	RCV000459912	SCV000556986	benign	Left ventricular noncompaction 8	2024-01-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000459912	SCV002811447	likely benign	Left ventricular noncompaction 8	2021-11-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917905	SCV004735019	benign	PRDM16-related condition	2019-05-28	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).
Clinical Genetics, Academic Medical Center	RCV000223463	SCV001921302	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001697184	SCV001963748	likely benign	not provided		no assertion criteria provided	clinical testing