ClinVar Miner

Submissions for variant NM_004550.4(NDUFS2):c.968G>A (p.Arg323Gln) (rs35086265)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198518 SCV000251869 likely benign not specified 2017-12-21 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224386 SCV000280997 likely benign not provided 2016-04-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000986449 SCV000604446 benign Mitochondrial complex 1 deficiency, nuclear type 6 2018-12-15 criteria provided, single submitter clinical testing
Invitae RCV000224386 SCV001099713 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000986449 SCV001135455 likely benign Mitochondrial complex 1 deficiency, nuclear type 6 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000224386 SCV001147488 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001098905 SCV001255302 uncertain significance Mitochondrial complex I deficiency, nuclear type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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