Submissions for variant NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val)

gnomAD frequency: 0.00258  dbSNP: rs147223770

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000121717	SCV000332209	benign	not specified	2015-06-15	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514929	SCV000609782	likely benign	not provided	2017-09-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084397	SCV000760148	benign	Hajdu-Cheney syndrome	2025-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000514929	SCV001852029	benign	not provided	2021-01-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26485759, 24366360, 32467344, 29642553, 29868112, 25587027, 22662265, 30653986, 26094658, 26553438, 24728327)
CeGaT Center for Human Genetics Tuebingen	RCV000514929	SCV004698509	benign	not provided	2024-12-01	criteria provided, single submitter	clinical testing	NOTCH2: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000514929	SCV005261577	likely benign	not provided		criteria provided, single submitter	not provided
ITMI	RCV000121717	SCV000085915	not provided	not specified	2013-09-19	no assertion provided	reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000514929	SCV001799811	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000514929	SCV001929821	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000514929	SCV001972458	likely benign	not provided		no assertion criteria provided	clinical testing