Submissions for variant NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser)

gnomAD frequency: 0.00160  dbSNP: rs201904226

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000232966	SCV000290647	benign	Left ventricular noncompaction 8	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001528391	SCV000532573	likely benign	not provided	2021-05-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28642161, 30847666)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000418666	SCV000711461	benign	not specified	2017-10-12	criteria provided, single submitter	clinical testing	p.Gly818Ser in exon 9 of PRDM16: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (21/6980) of Ashkenazi Jewish chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinst itute.org; dbSNP rs201904226). ACMG/AMP Criteria applied: BA1 (Richards 2015).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000418666	SCV004029641	likely benign	not specified	2023-07-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001528391	SCV004128003	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	PRDM16: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001528391	SCV004564112	likely benign	not provided	2023-10-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003929997	SCV004743473	likely benign	PRDM16-related condition	2019-11-05	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528391	SCV001740077	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000418666	SCV001918076	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000418666	SCV001958582	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528391	SCV001973246	likely benign	not provided		no assertion criteria provided	clinical testing