ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.1393-7del

dbSNP: rs760292289
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000313581 SCV000426550 uncertain significance Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000352020 SCV000426551 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001519149 SCV001727969 benign not provided 2023-02-08 criteria provided, single submitter clinical testing

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