Submissions for variant NM_004064.5(CDKN1B):c.426G>A (p.Thr142=)

gnomAD frequency: 0.00366  dbSNP: rs149775942

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227466	SCV000288084	benign	Multiple endocrine neoplasia type 4	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000249781	SCV000309963	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000227466	SCV000377019	benign	Multiple endocrine neoplasia type 4	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genetic Services Laboratory, University of Chicago	RCV000249781	SCV000593969	likely benign	not specified	2016-11-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000572941	SCV000664962	likely benign	Hereditary cancer-predisposing syndrome	2017-01-06	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000227466	SCV000744077	likely benign	Multiple endocrine neoplasia type 4	2014-10-10	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000249781	SCV000859963	benign	not specified	2018-03-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000857943	SCV001148645	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	CDKN1B: BP4, BP7, BS2
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000249781	SCV002047228	benign	not specified	2021-06-06	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000227466	SCV002505981	benign	Multiple endocrine neoplasia type 4	2023-11-08	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000249781	SCV002549999	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000227466	SCV002812351	likely benign	Multiple endocrine neoplasia type 4	2021-09-15	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000227466	SCV004017037	benign	Multiple endocrine neoplasia type 4	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000857943	SCV005213775	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000227466	SCV000733142	likely benign	Multiple endocrine neoplasia type 4		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000227466	SCV000746005	likely benign	Multiple endocrine neoplasia type 4	2016-07-13	no assertion criteria provided	clinical testing