Submissions for variant NM_001081.4(CUBN):c.2673C>T (p.Cys891=)

dbSNP: rs386833778

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001106473	SCV001263543	uncertain significance	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae	RCV001873508	SCV002269705	likely benign	Imerslund-Grasbeck syndrome	2024-01-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003413919	SCV004126499	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	CUBN: BP4
PreventionGenetics, part of Exact Sciences	RCV003953478	SCV004767587	likely benign	CUBN-related condition	2020-01-02	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).