ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.1143C>T (p.Ile381=) (rs142553521)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428617 SCV000522378 likely benign not specified 2017-10-12 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.
Invitae RCV000525178 SCV000631930 likely benign Glutaric aciduria, type 1 2020-12-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000676738 SCV000706049 uncertain significance not provided 2017-02-21 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000525178 SCV000745269 likely benign Glutaric aciduria, type 1 2017-06-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000676738 SCV001501239 likely benign not provided 2020-07-01 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000525178 SCV001653487 likely benign Glutaric aciduria, type 1 2021-05-18 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000525178 SCV000733850 likely benign Glutaric aciduria, type 1 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676738 SCV000802539 likely benign not provided 2016-02-29 no assertion criteria provided clinical testing
Natera, Inc. RCV000525178 SCV001460071 likely benign Glutaric aciduria, type 1 2019-11-11 no assertion criteria provided clinical testing

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