Submissions for variant NM_001081.4(CUBN):c.9565A>G (p.Ile3189Val)

gnomAD frequency: 0.01345  dbSNP: rs111265129

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000394265	SCV000361619	likely benign	Imerslund-Grasbeck syndrome 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861252	SCV001001512	benign	Imerslund-Grasbeck syndrome	2025-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001582926	SCV001813008	likely benign	not provided	2021-06-21	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001582926	SCV005226968	likely benign	not provided		criteria provided, single submitter	not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001582926	SCV005878516	benign	not provided	2024-08-09	criteria provided, single submitter	clinical testing