Submissions for variant NM_006258.4(PRKG1):c.1963-16T>G

gnomAD frequency: 0.00052  dbSNP: rs376174664

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001282291	SCV000604923	benign	Aortic aneurysm, familial thoracic 8	2023-08-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000508476	SCV000716846	likely benign	not specified	2018-01-11	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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680606	SCV000808035	likely benign	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001282291	SCV002343138	benign	Aortic aneurysm, familial thoracic 8	2024-01-18	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000508476	SCV004222965	benign	not specified	2023-11-20	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579894	SCV001808898	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001579894	SCV001930833	likely benign	not provided		no assertion criteria provided	clinical testing