Submissions for variant NM_022114.4(PRDM16):c.3110-4G>A

gnomAD frequency: 0.00046  dbSNP: rs201495178

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000217996	SCV000270759	likely benign	not specified	2015-04-16	criteria provided, single submitter	clinical testing	c.3110-4G>A in intron 13 of PRDM16: This variant is not expected to have clinica l significance because it is not located within the conserved splice consensus s equence. It has been identified in 0.1% (52/64314) of European chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs20 1495178).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000465584	SCV000556967	likely benign	Left ventricular noncompaction 8	2024-10-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000217996	SCV000718861	likely benign	not specified	2017-04-26	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.
Clinical Genetics, Academic Medical Center	RCV000217996	SCV001921296	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723795	SCV001952758	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001723795	SCV001965467	likely benign	not provided		no assertion criteria provided	clinical testing