ClinVar Miner

Submissions for variant NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) (rs121912698)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000514755 SCV000331390 uncertain significance not provided 2015-09-29 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514755 SCV000610521 uncertain significance not provided 2017-09-06 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000019738 SCV000746347 likely pathogenic Aminoacylase 1 deficiency 2017-12-03 criteria provided, single submitter clinical testing
Mendelics RCV000019738 SCV001136528 uncertain significance Aminoacylase 1 deficiency 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000514755 SCV001246945 pathogenic not provided 2020-11-01 criteria provided, single submitter clinical testing
Elsea Laboratory,Baylor College of Medicine RCV000019738 SCV001424240 pathogenic Aminoacylase 1 deficiency 2020-04-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000514755 SCV001447651 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000514755 SCV001714107 uncertain significance not provided 2021-03-09 criteria provided, single submitter clinical testing
OMIM RCV000019738 SCV000040036 pathogenic Aminoacylase 1 deficiency 2007-06-12 no assertion criteria provided literature only
Medical Genetics Laboratory,Tarbiat Modares University RCV000019738 SCV001547499 likely pathogenic Aminoacylase 1 deficiency 2020-03-01 no assertion criteria provided clinical testing

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