Submissions for variant NM_006565.4(CTCF):c.1986C>G (p.Pro662=)

gnomAD frequency: 0.00069  dbSNP: rs148681672

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000195282	SCV000247134	uncertain significance	not specified	2014-09-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000907650	SCV001052370	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000907650	SCV001905176	benign	not provided	2019-09-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415822	SCV002718408	likely benign	Inborn genetic diseases	2018-07-08	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000907650	SCV004139971	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	CTCF: BP4
PreventionGenetics, part of Exact Sciences	RCV004530111	SCV004753529	likely benign	CTCF-related disorder	2023-11-22	no assertion criteria provided	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).