ClinVar Miner

Submissions for variant NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) (rs886060726)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000326140 SCV000458049 uncertain significance Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383048 SCV000458050 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000668467 SCV000793076 uncertain significance Cockayne syndrome type A 2017-08-01 criteria provided, single submitter clinical testing

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