Submissions for variant NM_017617.5(NOTCH1):c.3644-5C>T

gnomAD frequency: 0.00018  dbSNP: rs371070297

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000470082	SCV000559890	likely benign	Adams-Oliver syndrome 5	2024-11-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001552411	SCV001773090	likely benign	not provided	2021-04-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000470082	SCV002554480	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270525	SCV002554481	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002350026	SCV002619350	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2021-03-04	criteria provided, single submitter	clinical testing	The c.3644-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 23 in the NOTCH1 gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV004541486	SCV004785528	likely benign	NOTCH1-related disorder	2020-04-01	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).