Submissions for variant NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu)

dbSNP: rs377286829

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000793806	SCV000933180	likely benign	Adams-Oliver syndrome 5	2025-01-17	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001508283	SCV001714337	uncertain significance	not provided	2020-09-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001508283	SCV001989184	uncertain significance	not provided	2019-07-03	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 that this variant does not alter protein structure/function
Genome-Nilou Lab	RCV000793806	SCV002553561	uncertain significance	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002271040	SCV002553562	uncertain significance	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	RCV001508283	SCV004099216	uncertain significance	not provided	2023-07-17	criteria provided, single submitter	clinical testing	PM2