ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.1290G>A (p.Arg430=)

gnomAD frequency: 0.00173  dbSNP: rs570574111
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126204 SCV000169699 benign not specified 2013-05-09 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.
Eurofins Ntd Llc (ga) RCV000727125 SCV000705968 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Invitae RCV000727125 SCV001024081 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831922 SCV002081615 likely benign Mitochondrial neurogastrointestinal encephalomyopathy 2019-10-23 no assertion criteria provided clinical testing

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