ClinVar Miner

Submissions for variant NM_016335.5(PRODH):c.1562= (p.Arg521=) (rs450046)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000115065 SCV000148973 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.
Invitae RCV000004222 SCV000631847 benign Proline dehydrogenase deficiency 2017-07-11 criteria provided, single submitter clinical testing
OMIM RCV000004222 SCV000024388 pathogenic Proline dehydrogenase deficiency 2005-03-01 no assertion criteria provided literature only
OMIM RCV000004223 SCV000024389 risk factor Schizophrenia 4 2005-03-01 no assertion criteria provided literature only

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