ClinVar Miner

Submissions for variant NM_001698.2(AUH):c.182C>A (p.Pro61His) (rs181327211)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000442868 SCV000510709 likely benign not provided 2016-09-01 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000198070 SCV000339807 benign not specified 2016-02-29 criteria provided, single submitter clinical testing
GeneDx RCV000198070 SCV000251176 benign not specified 2014-11-13 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 RCV000384928 SCV000480875 uncertain significance 3-Methylglutaconic aciduria type 1 2016-06-14 criteria provided, single submitter clinical testing

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