Submissions for variant NM_001081.3(CUBN):c.2594G>A (p.Ser865Asn) (rs138083522)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000255679	SCV000321528	likely benign	not specified	2017-03-20	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000534645	SCV000637261	likely benign	Imerslund-Gräsbeck syndrome	2019-12-31	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000255679	SCV000859044	likely benign	not specified	2018-01-24	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV001105418	SCV001262382	benign	Imerslund-Gräsbeck syndrome 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.