ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.476-6G>A

gnomAD frequency: 0.00031  dbSNP: rs376695255
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000395784 SCV000377022 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.
Sema4, Sema4 RCV002256193 SCV002527679 likely benign Hereditary cancer-predisposing syndrome 2022-01-12 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003920272 SCV004730252 likely benign CDKN1B-related disorder 2023-05-22 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).

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