Submissions for variant NM_017617.5(NOTCH1):c.2353+14G>A

gnomAD frequency: 0.00015  dbSNP: rs140288481

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000431530	SCV000535471	likely benign	not specified	2018-01-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV002063628	SCV002420845	likely benign	Adams-Oliver syndrome 5	2024-01-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002063628	SCV002554960	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270482	SCV002554961	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004017622	SCV004849166	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2015-09-06	criteria provided, single submitter	clinical testing	The c.2353+14G>A intronic alteration consists of a G to A substitution 4 nucleotides after coding exon 14 in the NOTCH1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579562	SCV001807697	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001579562	SCV001928226	likely benign	not provided		no assertion criteria provided	clinical testing