ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.762G>A (p.Thr254=)

gnomAD frequency: 0.00001  dbSNP: rs373478014
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000915182 SCV001060380 likely benign not provided 2024-07-03 criteria provided, single submitter clinical testing
GeneDx RCV000915182 SCV002056057 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533)
Natera, Inc. RCV001272328 SCV001454203 uncertain significance Mitochondrial neurogastrointestinal encephalomyopathy 2020-02-13 no assertion criteria provided clinical testing

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