ClinVar Miner

Submissions for variant NM_030912.3(TRIM8):c.1267C>T (p.Gln423Ter)

dbSNP: rs2064030858
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001267992 SCV001446552 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV001849497 SCV002106970 likely pathogenic Seizure; Focal segmental glomerulosclerosis; Neurodevelopmental delay 2021-01-27 no assertion criteria provided literature only

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