Submissions for variant NM_017617.5(NOTCH1):c.1100-8C>T

gnomAD frequency: 0.00030  dbSNP: rs545088400

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724764	SCV000232272	uncertain significance	not provided	2015-04-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000724764	SCV000534636	likely benign	not provided	2021-09-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084989	SCV000559878	benign	Adams-Oliver syndrome 5	2025-01-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724764	SCV004162058	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	NOTCH1: BP4, BS1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003993863	SCV004813135	benign	not specified	2024-02-04	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000724764	SCV005877648	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537497	SCV004718525	likely benign	NOTCH1-related disorder	2024-02-04	no assertion criteria provided	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).