ClinVar Miner

Submissions for variant NM_004656.3(BAP1):c.1427T>C (p.Val476Ala) (rs144060813)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000579882 SCV000682577 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-07 criteria provided, single submitter clinical testing
Invitae RCV000228176 SCV000288740 likely benign Tumor susceptibility linked to germline BAP1 mutations 2017-12-22 criteria provided, single submitter clinical testing

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