Submissions for variant NM_006258.4(PRKG1):c.906A>C (p.Gly302=)

gnomAD frequency: 0.00185  dbSNP: rs145917628

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001721419	SCV000533630	likely benign	not provided	2021-04-19	criteria provided, single submitter	clinical testing
Invitae	RCV001000887	SCV000659241	benign	Aortic aneurysm, familial thoracic 8	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313133	SCV000739568	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-07-27	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000887	SCV001157969	benign	Aortic aneurysm, familial thoracic 8	2022-01-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003330679	SCV004039078	benign	not specified	2023-08-11	criteria provided, single submitter	clinical testing