Submissions for variant NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[4] (p.152APVA[4])

dbSNP: rs565544512

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000537679	SCV000623157	likely benign	Beckwith-Wiedemann syndrome	2024-01-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000537679	SCV002534275	likely benign	Beckwith-Wiedemann syndrome	2021-01-13	criteria provided, single submitter	curation
Ambry Genetics	RCV002525262	SCV003716427	likely benign	Inborn genetic diseases	2022-08-18	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	RCV003392358	SCV004133933	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	CDKN1C: BS1
PreventionGenetics, part of Exact Sciences	RCV003942722	SCV004761225	likely benign	CDKN1C-related disorder	2024-09-17	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).