ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.4680G>A (p.Thr1560=)

gnomAD frequency: 0.00140  dbSNP: rs146007249
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500235 SCV000593621 likely benign not specified 2016-07-13 criteria provided, single submitter clinical testing
Invitae RCV000640957 SCV000762562 benign Oculofaciocardiodental syndrome 2024-01-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496943 SCV002805870 likely benign Microphthalmia, syndromic 1; Oculofaciocardiodental syndrome 2021-08-18 criteria provided, single submitter clinical testing

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