ClinVar Miner

Submissions for variant NM_004064.4(CDKN1B):c.-80C>T (rs551236750)

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Total submissions: 3
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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 Clinical Services Laboratory,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.
Gharavi Laboratory,Columbia University RCV000782206 SCV000920686 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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