Submissions for variant NM_006258.4(PRKG1):c.30G>A (p.Ala10=)

gnomAD frequency: 0.00006  dbSNP: rs768867882

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000461485	SCV000557799	likely benign	Aortic aneurysm, familial thoracic 8	2024-01-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001707700	SCV000718554	likely benign	not provided	2020-02-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313205	SCV000739592	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-03-07	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000660229	SCV000782232	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001707700	SCV005220723	likely benign	not provided		criteria provided, single submitter	not provided