Submissions for variant NM_004064.5(CDKN1B):c.75G>A (p.Lys25=)

gnomAD frequency: 0.00009  dbSNP: rs367611328

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001085206	SCV000554690	likely benign	Multiple endocrine neoplasia type 4	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000575706	SCV000673209	likely benign	Hereditary cancer-predisposing syndrome	2017-03-10	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	RCV000471828	SCV001148643	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	CDKN1B: BP4, BP7
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000471828	SCV004220768	likely benign	not provided	2023-04-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003902661	SCV004725283	likely benign	CDKN1B-related disorder	2020-10-15	criteria provided, single submitter	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).