ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.2057-22A>C

gnomAD frequency: 0.00246  dbSNP: rs144083199
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002267947 SCV002550621 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316156 SCV004016328 likely benign Melanoma, uveal, susceptibility to, 2 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710588 SCV005263437 likely benign not provided criteria provided, single submitter not provided
University of Washington Department of Laboratory Medicine, University of Washington RCV000209138 SCV000264926 likely benign Hereditary cancer-predisposing syndrome 2015-12-01 no assertion criteria provided clinical testing

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