ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.*846dup

dbSNP: rs58253838
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000364348 SCV000426514 uncertain significance Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271891 SCV000426515 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing

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