ClinVar Miner

Submissions for variant NM_001377299.1(NDUFS2):c.702+14_702+17dup

dbSNP: rs776704187
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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 RCV000343322 SCV000350128 uncertain significance Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000480470 SCV000565848 likely benign not specified 2016-03-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002059342 SCV002403222 benign not provided 2024-11-13 criteria provided, single submitter clinical testing

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