Submissions for variant NM_002734.5(PRKAR1A):c.349-5dup

dbSNP: rs3841514

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242998	SCV000309154	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000391534	SCV000405882	benign	Acrodysostosis	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000295961	SCV000405883	benign	Carney complex	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000566192	SCV000664949	benign	Hereditary cancer-predisposing syndrome	2020-07-10	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001521654	SCV001731032	benign	Carney complex, type 1	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001659926	SCV001881234	benign	not provided	2021-05-21	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001521654	SCV002031842	benign	Carney complex, type 1	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789000	SCV002031843	benign	Acrodysostosis 1 with or without hormone resistance	2021-10-25	criteria provided, single submitter	clinical testing