ClinVar Miner

Submissions for variant NM_004544.4(NDUFA10):c.749+11C>T

gnomAD frequency: 0.00019  dbSNP: rs200760509
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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 RCV000305494 SCV000429006 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000360176 SCV000429007 uncertain significance Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001672578 SCV001889104 likely benign not provided 2020-01-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001672578 SCV002931135 likely benign not provided 2024-12-03 criteria provided, single submitter clinical testing

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