ClinVar Miner

Submissions for variant NM_000666.3(ACY1):c.575dup (p.Ser192fs) (rs770702363)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091093 SCV001246944 pathogenic not provided 2020-04-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001091093 SCV001714106 pathogenic not provided 2019-04-07 criteria provided, single submitter clinical testing PVS1, PS3, PM2, PM3, PP4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000984988 SCV001132914 pathogenic Aminoacylase 1 deficiency 2019-08-25 no assertion criteria provided clinical testing

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