Submissions for variant NM_001081.4(CUBN):c.5304C>T (p.Ile1768=)

gnomAD frequency: 0.05795  dbSNP: rs61841454

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000311740	SCV000361706	benign	Imerslund-Grasbeck syndrome 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001612943	SCV000603271	benign	not provided	2023-11-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520439	SCV001729533	benign	Imerslund-Grasbeck syndrome	2025-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001612943	SCV001839632	benign	not provided	2018-10-17	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001612943	SCV005316949	benign	not provided		criteria provided, single submitter	not provided