ClinVar Miner

Submissions for variant NM_004551.2(NDUFS3):c.-30C>T

gnomAD frequency: 0.00008  dbSNP: rs375483884
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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 RCV000392871 SCV000372502 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000308294 SCV000372503 uncertain significance Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing

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