ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) (rs41298896)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000124664 SCV000221370 likely pathogenic not provided no assertion criteria provided research
GeneDx RCV000212484 SCV000168097 benign not specified 2013-12-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000348357 SCV000361552 likely benign Histiocytic medullary reticulosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000543211 SCV000645230 benign Severe combined immunodeficiency with sensitivity to ionizing radiation 2018-01-02 criteria provided, single submitter clinical testing

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