ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.970T>C (p.Cys324Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV001261592 SCV001438864 likely pathogenic Pierson syndrome criteria provided, single submitter clinical testing
GeneDx RCV001557926 SCV001779776 uncertain significance not provided 2019-06-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 28188379)

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