ClinVar Miner

Submissions for variant NM_016335.6(PRODH):c.1401C>T (p.Tyr467=)

gnomAD frequency: 0.00039  dbSNP: rs200018716
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001514908 SCV001722870 benign Proline dehydrogenase deficiency 2024-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506610 SCV002805849 likely benign Proline dehydrogenase deficiency; Schizophrenia 4 2022-01-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714235 SCV005278359 benign not provided criteria provided, single submitter not provided

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