ClinVar Miner

Submissions for variant NM_004614.5(TK2):c.619-53A>G

gnomAD frequency: 0.13547  dbSNP: rs2241619
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000832963 SCV000974720 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV001838645 SCV002098474 benign Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838644 SCV002098475 benign Mitochondrial DNA depletion syndrome, myopathic form 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000832963 SCV005249723 benign not provided criteria provided, single submitter not provided

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