ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.262-15del

dbSNP: rs34184317
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000307662 SCV000426576 uncertain significance Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000364669 SCV000426577 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522963 SCV001732603 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001522963 SCV001865862 benign not provided 2019-08-09 criteria provided, single submitter clinical testing

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