ClinVar Miner

Submissions for variant NM_001377299.1(NDUFS2):c.95+9G>C

gnomAD frequency: 0.00006  dbSNP: rs377100925
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198687 SCV000251872 benign not specified 2015-01-27 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.
Invitae RCV000917709 SCV001062999 likely benign not provided 2022-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003343692 SCV004048796 benign Mitochondrial complex 1 deficiency, nuclear type 6 2023-04-11 criteria provided, single submitter clinical testing

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