Submissions for variant NM_004064.5(CDKN1B):c.-80C>T

gnomAD frequency: 0.00021  dbSNP: rs551236750

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Endocrine Unit 2, University Hospital of Pisa	RCV000210356	SCV000246271	pathogenic	Primary hyperparathyroidism	2015-01-01	criteria provided, single submitter	research
Illumina Laboratory Services, Illumina	RCV001111699	SCV001269276	benign	Multiple endocrine neoplasia type 4	2018-01-13	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.
PreventionGenetics, part of Exact Sciences	RCV003967537	SCV004783704	likely benign	CDKN1B-related disorder	2021-01-09	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).
Baylor Genetics	RCV001111699	SCV005060208	uncertain significance	Multiple endocrine neoplasia type 4	2024-03-06	criteria provided, single submitter	clinical testing
Gharavi Laboratory, Columbia University	RCV000782206	SCV000920686	uncertain significance	not provided	2018-09-16	no assertion criteria provided	research