ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.1201T>G (p.Tyr401Asp)

gnomAD frequency: 0.00007  dbSNP: rs376563004
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000708937 SCV000838042 uncertain significance BAP1-related tumor predisposition syndrome 2018-07-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485781 SCV002796368 uncertain significance BAP1-related tumor predisposition syndrome; Kury-Isidor syndrome 2022-02-07 criteria provided, single submitter clinical testing

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