ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) (rs28934585)

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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 RCV000077913 SCV000602380 benign not specified 2016-02-03 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000420053 SCV000511302 benign not provided 2016-10-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000077913 SCV000109742 benign not specified 2013-02-26 criteria provided, single submitter clinical testing
GeneDx RCV000077913 SCV000238630 benign not specified 2014-10-08 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.
GeneReviews RCV000020076 SCV000040374 benign Very long chain acyl-CoA dehydrogenase deficiency 2011-09-22 no assertion criteria provided curation Converted during submission to Benign.
Illumina Clinical Services Laboratory,Illumina RCV000020076 SCV000406308 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000020076 SCV000654948 benign Very long chain acyl-CoA dehydrogenase deficiency 2017-12-09 criteria provided, single submitter clinical testing
PreventionGenetics RCV000077913 SCV000301521 likely benign not specified criteria provided, single submitter clinical testing

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