Submissions for variant NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His)

gnomAD frequency: 0.00375  dbSNP: rs41313282

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000121725	SCV000297310	likely benign	not specified	2015-12-17	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000121725	SCV000332189	benign	not specified	2015-06-18	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514264	SCV000611004	likely benign	not provided	2017-08-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083816	SCV000636902	benign	Hajdu-Cheney syndrome	2025-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000514264	SCV001896219	benign	not provided	2020-01-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32859249)
CeGaT Center for Human Genetics Tuebingen	RCV000514264	SCV004124455	benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	NOTCH2: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000514264	SCV005261575	likely benign	not provided		criteria provided, single submitter	not provided
ITMI	RCV000121725	SCV000085923	not provided	not specified	2013-09-19	no assertion provided	reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000514264	SCV001799859	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000514264	SCV001932155	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000514264	SCV001968635	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925203	SCV004746235	benign	NOTCH2-related disorder	2019-09-23	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).