ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.1448C>T (p.Pro483Leu)

gnomAD frequency: 0.00008  dbSNP: rs587778096
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001522695 SCV001732283 benign Oculofaciocardiodental syndrome 2018-12-18 criteria provided, single submitter clinical testing
ITMI RCV000120210 SCV000084356 not provided not specified 2013-09-19 no assertion provided reference population

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