Submissions for variant NM_022114.4(PRDM16):c.1187-10G>C

gnomAD frequency: 0.00014  dbSNP: rs201517837

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000221026	SCV000272321	uncertain significance	not specified	2015-05-26	criteria provided, single submitter	clinical testing	The c.1187-10G>C in PRDM16 has not been previously reported in individuals with cardiomyopathy, but has been identified in 15/65236 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs2015 17837). This variant is located in the 3' splice region. Computational tools do not predict altered splicing, though this information is not predictive enough t o rule out pathogenicity. In summary, the clinical significance of the c.1187-10 G>C variant is uncertain.
GeneDx	RCV001707559	SCV000732642	likely benign	not provided	2020-01-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000651672	SCV000773526	likely benign	Left ventricular noncompaction 8	2025-01-07	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000221026	SCV005395243	benign	not specified	2024-09-22	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000221026	SCV001921604	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001707559	SCV001953785	likely benign	not provided		no assertion criteria provided	clinical testing