ClinVar Miner

Submissions for variant NM_001211.5(BUB1B):c.119C>T (p.Thr40Met) (rs56079734)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120422 SCV000860197 benign not specified 2018-03-13 criteria provided, single submitter clinical testing
ITMI RCV000120422 SCV000084574 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000470671 SCV000554086 benign Mosaic variegated aneuploidy syndrome 2018-01-05 criteria provided, single submitter clinical testing
OMIM RCV000007150 SCV000027346 pathogenic Carcinoma of colon 1998-03-19 no assertion criteria provided literature only

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