ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.2129G>A (p.Arg710His)

gnomAD frequency: 0.00007  dbSNP: rs200732803
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 RCV000537612 SCV000640044 benign Oculofaciocardiodental syndrome 2022-12-19 criteria provided, single submitter clinical testing
ITMI RCV000120214 SCV000084360 not provided not specified 2013-09-19 no assertion provided reference population

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