ClinVar Miner

Submissions for variant NM_014317.5(PDSS1):c.89G>T (p.Gly30Val) (rs17855857)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127441 SCV000171006 benign not specified 2013-06-03 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625138 SCV000743850 benign Coenzyme Q10 deficiency, primary, 2 2016-05-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295101 SCV000361992 uncertain significance Coenzyme Q10 deficiency, primary 2016-06-14 criteria provided, single submitter clinical testing

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