Submissions for variant NM_000435.3(NOTCH3):c.5370C>T (p.Phe1790=)

gnomAD frequency: 0.00287  dbSNP: rs35887416

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242930	SCV000304265	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000398882	SCV000410960	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	RCV000242930	SCV000614312	benign	not specified	2017-06-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000874406	SCV001016579	benign	not provided	2023-12-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000874406	SCV004140295	benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	NOTCH3: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000874406	SCV005315438	benign	not provided		criteria provided, single submitter	not provided