Submissions for variant NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=)

gnomAD frequency: 0.56438  dbSNP: rs1043996

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000241854	SCV000304251	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000269025	SCV000410992	benign	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc	RCV000269025	SCV000677222	benign	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	2017-05-17	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001521143	SCV001157012	benign	not provided	2021-01-14	criteria provided, single submitter	clinical testing
Invitae	RCV001521143	SCV001730418	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001521143	SCV001827691	benign	not provided	2019-03-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000269025	SCV002026910	benign	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001785529	SCV002026911	benign	Lateral meningocele syndrome	2021-09-05	criteria provided, single submitter	clinical testing
GenomeConnect - CureCADASIL	RCV000269025	SCV001245244	not provided	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1		no assertion provided	phenotyping only	Variant interpreted as Benign and reported on 06-21-2005 by Lab or GTR ID 1012. GenomeConnect-CureCADASIL assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000241854	SCV001744534	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000241854	SCV001806965	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000241854	SCV001967517	benign	not specified		no assertion criteria provided	clinical testing