Submissions for variant NM_006383.4(CIB2):c.462G>A (p.Glu154=)

gnomAD frequency: 0.00236  dbSNP: rs117153558

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178917	SCV000231097	likely benign	not specified	2014-11-10	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000178917	SCV000268878	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Glu154Glu in exon 5 of CIB2: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 0.4% (34/8586) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs117153558).
PreventionGenetics, part of Exact Sciences	RCV000178917	SCV000311474	likely benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000957942	SCV001104765	benign	not provided	2025-01-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000957942	SCV001143572	likely benign	not provided	2018-08-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000957942	SCV001794254	likely benign	not provided	2020-09-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000957942	SCV002063438	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	CIB2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV000957942	SCV005213281	likely benign	not provided		criteria provided, single submitter	not provided