ClinVar Miner

Submissions for variant NM_000104.3(CYP1B1):c.1169G>A (p.Arg390His) (rs56010818)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727642 SCV000854928 pathogenic not provided 2018-08-03 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000727642 SCV001251756 likely pathogenic not provided 2020-05-03 criteria provided, single submitter clinical testing
GeneDx RCV000727642 SCV001811030 pathogenic not provided 2019-08-21 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 32830442, 29540704, 30270463, 30108387, 19204079, 22878448, 29903728, 30820150, 31236345, 19536304, 27508083, 25018621, 15475877, 19247456, 9497261, 25527694)

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