ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.177C>T (p.Ala59=)

gnomAD frequency: 0.00004  dbSNP: rs137930991
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000928256 SCV001073863 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000928256 SCV001788442 likely benign not provided 2019-11-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000928256 SCV005433522 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing TYMP: BP4, BP7
Natera, Inc. RCV001832100 SCV002081634 likely benign Mitochondrial neurogastrointestinal encephalomyopathy 2021-06-12 no assertion criteria provided clinical testing

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