ClinVar Miner

Submissions for variant NM_014165.4(NDUFAF4):c.241-18dup (rs34213186)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000376533 SCV000465790 likely benign Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000613328 SCV000730516 benign not specified 2018-03-16 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 RCV000676776 SCV001093125 benign not provided 2019-12-11 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676776 SCV000802577 benign not provided 2016-02-19 no assertion criteria provided clinical testing

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