ClinVar Miner

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

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Total submissions: 5
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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
OMIM RCV000019738 SCV000040036 pathogenic Aminoacylase 1 deficiency 2007-06-12 no assertion criteria provided literature only

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