ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val) (rs114734921)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000224577 SCV000266794 benign not provided 2019-02-08 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224577 SCV000281187 likely benign not provided 2016-05-10 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000435246 SCV000526183 likely benign not specified 2017-10-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory,University of Chicago RCV000435246 SCV000593225 likely benign not specified 2015-11-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000435246 SCV000704635 likely benign not specified 2016-12-20 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000210525 SCV000744938 likely benign Spastic paraplegia 47, autosomal recessive 2017-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716080 SCV000846913 benign History of neurodevelopmental disorder 2016-06-22 criteria provided, single submitter clinical testing Insufficient evidence
CeGaT Praxis fuer Humangenetik Tuebingen RCV000224577 SCV001147382 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000210525 SCV000733936 likely benign Spastic paraplegia 47, autosomal recessive no assertion criteria provided clinical testing

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