ClinVar Miner

Submissions for variant NM_016335.6(PRODH):c.1292G>A (p.Arg431His)

gnomAD frequency: 0.06735  dbSNP: rs2904552
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000004225 SCV001367972 likely pathogenic Schizophrenia 4 2019-05-13 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS3,PM3, PP3, PP5.
Invitae RCV000004224 SCV001728184 benign Proline dehydrogenase deficiency 2024-01-29 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000004224 SCV002581197 uncertain significance Proline dehydrogenase deficiency 2022-04-29 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000004224 SCV004806537 likely benign Proline dehydrogenase deficiency 2024-03-26 criteria provided, single submitter clinical testing
OMIM RCV000004224 SCV000024390 pathogenic Proline dehydrogenase deficiency 2005-03-01 no assertion criteria provided literature only
OMIM RCV000004225 SCV000024391 risk factor Schizophrenia 4 2005-03-01 no assertion criteria provided literature only

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