ClinVar Miner

Submissions for variant NM_001211.5(BUB1B):c.580C>T (p.Arg194Ter) (rs28989186)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Courtagen Diagnostics Laboratory,Courtagen Life Sciences RCV000007152 SCV000236541 pathogenic Mosaic variegated aneuploidy syndrome 1 2015-03-03 criteria provided, single submitter clinical testing
OMIM RCV000007152 SCV000027348 pathogenic Mosaic variegated aneuploidy syndrome 1 2004-11-01 no assertion criteria provided literature only
OMIM RCV000007153 SCV000027349 affects Premature chromatid separation trait 2004-11-01 no assertion criteria provided literature only

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