Submissions for variant NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro)

gnomAD frequency: 0.10508  dbSNP: rs35769976

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243215	SCV000304254	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000009808	SCV000410983	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	RCV000243215	SCV000614272	benign	not specified	2017-07-12	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001519393	SCV001159334	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV001519393	SCV001728258	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001519393	SCV001864476	benign	not provided	2021-05-04	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27884173, 18765654, 19528524, 21345538, 20981092)
Fulgent Genetics, Fulgent Genetics	RCV002504773	SCV002811977	benign	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Myofibromatosis, infantile, 2	2021-10-04	criteria provided, single submitter	clinical testing
OMIM	RCV000009808	SCV000030029	pathogenic	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	2009-06-16	no assertion criteria provided	literature only
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001519393	SCV001799554	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000243215	SCV001806816	benign	not specified		no assertion criteria provided	clinical testing