ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) (rs35441642)

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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 RCV000244893 SCV000603291 benign not specified 2015-12-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305875 SCV000361560 likely benign Histiocytic medullary reticulosis 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029657 SCV000052309 benign Severe combined immunodeficiency disease 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
PreventionGenetics RCV000244893 SCV000305989 benign not specified criteria provided, single submitter clinical testing

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