Submissions for variant NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His)

gnomAD frequency: 0.01547  dbSNP: rs10406745

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251226	SCV000304247	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000386905	SCV000410997	benign	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	2018-01-12	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	RCV000251226	SCV000614250	benign	not specified	2017-07-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000870867	SCV001012424	benign	not provided	2025-01-20	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000870867	SCV001472529	benign	not provided	2023-09-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000870867	SCV002574429	likely benign	not provided	2022-02-14	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics	RCV002494705	SCV002804294	benign	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Myofibromatosis, infantile, 2	2021-11-18	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000870867	SCV005308382	benign	not provided		criteria provided, single submitter	not provided
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine	RCV002285153	SCV002575051	uncertain significance	Pulmonary arterial hypertension	2022-09-26	no assertion criteria provided	clinical testing