ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.543A>T (p.Ile181=) (rs61749952)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000676800 SCV000883715 benign not provided 2018-03-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179714 SCV000232005 benign not specified 2015-02-10 criteria provided, single submitter clinical testing
GeneDx RCV000179714 SCV000168124 benign not specified 2012-04-24 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.
Illumina Clinical Services Laboratory,Illumina RCV000261104 SCV000466223 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333518 SCV000466224 uncertain significance Maple syrup urine disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388010 SCV000466225 uncertain significance Pyruvate dehydrogenase complex deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000653830 SCV000775720 benign Maple syrup urine disease, type 3 2017-11-21 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676800 SCV000802608 likely benign not provided 2016-02-29 no assertion criteria provided clinical testing

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