ClinVar Miner

Submissions for variant NM_000242.2(MBL2):c.170G>A (p.Gly57Glu) (rs1800451)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000015425 SCV000363068 likely benign Mannose-binding protein deficiency 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455297 SCV000539594 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency, variant previously associated with placental malaria, systemic lupus, tuberculosis. Functional studies show some impact?
OMIM RCV000015425 SCV000035689 pathogenic Mannose-binding protein deficiency 1992-12-01 no assertion criteria provided literature only

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