ClinVar Miner

Submissions for variant NM_016335.6(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
Invitae RCV000004222 SCV000631847 benign Proline dehydrogenase deficiency 2019-12-31 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
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.

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