ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.274G>C (p.Ala92Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795706 SCV005417278 uncertain significance Melanoma, uveal, susceptibility to, 2; BAP1-related tumor predisposition syndrome; Kury-Isidor syndrome criteria provided, single submitter clinical testing PM2_Supporting+PS2_Supporting+PP3_Moderate+PP2

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