ClinVar Miner

Submissions for variant NM_139242.4(MTFMT):c.796C>T (p.Arg266Cys)

gnomAD frequency: 0.00884  dbSNP: rs35302908
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126842 SCV000170371 benign not specified 2014-02-09 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 RCV000967366 SCV001114747 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197773 SCV001368552 benign Combined oxidative phosphorylation defect type 15 2018-11-08 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
CeGaT Center for Human Genetics Tuebingen RCV000967366 SCV004132679 benign not provided 2023-01-01 criteria provided, single submitter clinical testing MTFMT: BP4, BS1, BS2

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