Submissions for variant NM_017617.5(NOTCH1):c.2970-9C>T

gnomAD frequency: 0.00021  dbSNP: rs568052902

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000537325	SCV000659416	likely benign	Adams-Oliver syndrome 5	2024-01-13	criteria provided, single submitter	clinical testing
GeneDx	RCV001579888	SCV000715770	likely benign	not provided	2021-01-12	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000660155	SCV000782149	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000537325	SCV002554551	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270688	SCV002554552	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003488696	SCV004241686	benign	not specified	2023-12-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004543257	SCV004760039	likely benign	NOTCH1-related disorder	2020-12-31	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579888	SCV001808872	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001579888	SCV001928445	likely benign	not provided		no assertion criteria provided	clinical testing