Submissions for variant NM_001081.4(CUBN):c.5305G>A (p.Val1769Ile)

dbSNP: rs74116778

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000397886	SCV000361705	benign	Imerslund-Grasbeck syndrome 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001512328	SCV001719721	benign	Imerslund-Grasbeck syndrome	2024-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001672422	SCV001889290	benign	not provided	2019-02-22	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002494935	SCV002801797	benign	Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign	2021-12-18	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001672422	SCV005316948	benign	not provided		criteria provided, single submitter	not provided