ClinVar Miner

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

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Total submissions: 10
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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 RCV000224577 SCV000526183 likely benign not provided 2020-04-29 criteria provided, single submitter clinical testing
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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, 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
Invitae RCV000210525 SCV001730166 benign Spastic paraplegia 47, autosomal recessive 2020-12-04 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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