ClinVar Miner

Submissions for variant NM_001211.5(BUB1B):c.1649G>A (p.Arg550Gln) (rs28989187)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000524507 SCV000554085 benign Mosaic variegated aneuploidy syndrome 2017-10-14 criteria provided, single submitter clinical testing
OMIM RCV000007164 SCV000027360 pathogenic Mosaic variegated aneuploidy syndrome 1 2004-11-01 no assertion criteria provided literature only
OMIM RCV000007165 SCV000027361 affects Premature chromatid separation trait 2004-11-01 no assertion criteria provided literature only

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