Submissions for variant NM_004064.5(CDKN1B):c.54C>T (p.Ala18=)

gnomAD frequency: 0.00009  dbSNP: rs151027466

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000474709	SCV000554682	likely benign	Multiple endocrine neoplasia type 4	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000573628	SCV000673203	likely benign	Hereditary cancer-predisposing syndrome	2017-07-19	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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV003237876	SCV002009971	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003237876	SCV004220767	benign	not provided	2023-01-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003942507	SCV004758619	likely benign	CDKN1B-related disorder	2022-09-23	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).