ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.931+10G>C

gnomAD frequency: 0.00006  dbSNP: rs199560386
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000271564 SCV000445476 likely benign BAP1-related tumor predisposition syndrome 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000271564 SCV000563735 likely benign BAP1-related tumor predisposition syndrome 2024-01-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000580425 SCV000682658 likely benign Hereditary cancer-predisposing syndrome 2016-06-08 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000271564 SCV005404809 benign BAP1-related tumor predisposition syndrome 2024-07-15 criteria provided, single submitter clinical testing This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
PreventionGenetics, part of Exact Sciences RCV003897783 SCV004712119 likely benign BAP1-related disorder 2023-07-28 no assertion criteria provided 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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