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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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
Natera, Inc. RCV001832100 SCV002081634 likely benign Mitochondrial neurogastrointestinal encephalomyopathy 2021-06-12 no assertion criteria provided clinical testing

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