ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.2449del (p.Thr817fs)

dbSNP: rs1602148660
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001027990 SCV001190745 likely pathogenic Oculofaciocardiodental syndrome 2020-02-05 no assertion criteria provided clinical testing

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