ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.288G>A (p.Leu96=) (rs117382883)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227228 SCV000288751 benign Tumor susceptibility linked to germline BAP1 mutations 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000227228 SCV000445486 benign Tumor susceptibility linked to germline BAP1 mutations 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.
Ambry Genetics RCV000565753 SCV000664640 benign Hereditary cancer-predisposing syndrome 2015-12-07 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Color RCV000565753 SCV000682616 benign Hereditary cancer-predisposing syndrome 2016-03-18 criteria provided, single submitter clinical testing

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