Submissions for variant NM_001122630.2(CDKN1C):c.567_578del (p.186_187AP[8])

dbSNP: rs878853634

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000230610	SCV000283414	benign	Beckwith-Wiedemann syndrome	2025-02-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000503434	SCV000593972	likely benign	not specified	2016-07-13	criteria provided, single submitter	clinical testing
GeneDx	RCV001574201	SCV001800976	likely benign	not provided	2019-03-12	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000230610	SCV002534282	likely benign	Beckwith-Wiedemann syndrome	2021-03-15	criteria provided, single submitter	curation
Ambry Genetics	RCV002519777	SCV003683397	benign	Inborn genetic diseases	2022-09-19	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV001574201	SCV004133930	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	CDKN1C: BS1
PreventionGenetics, part of Exact Sciences	RCV003967611	SCV004780435	likely benign	CDKN1C-related disorder	2021-01-08	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).