ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.516+27A>G

gnomAD frequency: 0.54142  dbSNP: rs470119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000830814 SCV000972550 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 RCV001543806 SCV001762672 benign Mitochondrial DNA depletion syndrome 1 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000830814 SCV005277362 benign not provided criteria provided, single submitter not provided

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