Submissions for variant NM_022114.4(PRDM16):c.3102C>T (p.Asn1034=)

gnomAD frequency: 0.00144  dbSNP: rs199853370

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000226908	SCV000290651	benign	Left ventricular noncompaction 8	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001529041	SCV000521409	benign	not provided	2019-08-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000226908	SCV002797287	likely benign	Left ventricular noncompaction 8	2022-05-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529041	SCV004128009	benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	PRDM16: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001529041	SCV004562164	benign	not provided	2023-10-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003929998	SCV004743253	benign	PRDM16-related condition	2019-05-20	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529041	SCV001741824	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000444388	SCV001922424	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000444388	SCV001957957	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529041	SCV001967753	likely benign	not provided		no assertion criteria provided	clinical testing