ClinVar Miner

Submissions for variant NM_001006658.2(CR2):c.524C>T (p.Pro175Leu) (rs75282758)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000455760 SCV000603221 likely benign not specified 2017-03-29 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658540 SCV000780315 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
Invitae RCV000544149 SCV000652490 likely benign Common variable immunodeficiency 7 2018-01-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455760 SCV000538736 uncertain significance 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: 0.7% in East asian in ExAC with 2 homozygotes and 0.58% in european with 1 homozygote. Reported in 1/36 patients with hemolytic syndrome who also carried a c.1160-2A>G variant in CFH (Bu 2014). However, even the association gene-disease is not that strong (moderate).

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