Submissions for variant NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=)

gnomAD frequency: 0.00784  dbSNP: rs78926093

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248509	SCV000304258	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000268553	SCV000410972	likely benign	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000487540	SCV000575148	uncertain significance	not provided	2016-11-01	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000248509	SCV000614297	benign	not specified	2017-07-25	criteria provided, single submitter	clinical testing
Invitae	RCV000487540	SCV001013016	likely benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000487540	SCV001159660	benign	not provided	2023-11-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000487540	SCV002064212	likely benign	not provided	2021-05-06	criteria provided, single submitter	clinical testing