Submissions for variant NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser)

gnomAD frequency: 0.00004  dbSNP: rs375260339

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001043793	SCV001207557	likely benign	Adams-Oliver syndrome 5	2023-03-13	criteria provided, single submitter	clinical testing
GeneDx	RCV001569819	SCV001793975	uncertain significance	not provided	2019-01-08	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Genome-Nilou Lab	RCV001043793	SCV002553510	uncertain significance	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002271172	SCV002553511	uncertain significance	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001569819	SCV001928010	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001569819	SCV001951778	uncertain significance	not provided		no assertion criteria provided	clinical testing