Submissions for variant NM_000435.3(NOTCH3):c.1725G>A (p.Thr575=)

dbSNP: rs79926127

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250720	SCV000304244	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000371430	SCV000411000	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	RCV000250720	SCV000614237	benign	not specified	2017-08-02	criteria provided, single submitter	clinical testing
Invitae	RCV000870606	SCV001012123	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000870606	SCV001159778	benign	not provided	2023-09-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000870606	SCV001901505	benign	not provided	2021-05-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000870606	SCV002498445	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	NOTCH3: PP3, BS1, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000250720	SCV001808317	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000250720	SCV001966090	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000250720	SCV002036027	benign	not specified		no assertion criteria provided	clinical testing