Submissions for variant NM_022114.4(PRDM16):c.387+6C>T

gnomAD frequency: 0.00373  dbSNP: rs369010644

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000216479	SCV000269737	benign	not specified	2015-06-10	criteria provided, single submitter	clinical testing	c.387+6C>T in intron 2 of PRDM16: This variant is not expected to have clinical significance because it has been identified in 1.9% (104/5612) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs369010644).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000464355	SCV000556981	benign	Left ventricular noncompaction 8	2025-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000216479	SCV000714254	benign	not specified	2017-01-18	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812235	SCV002048368	benign	not provided	2021-05-22	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000216479	SCV004038540	benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000216479	SCV001924627	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000216479	SCV001955370	benign	not specified		no assertion criteria provided	clinical testing