ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.594A>G (p.Leu198=)

gnomAD frequency: 0.00002  dbSNP: rs753241194
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001307226 SCV001496630 likely benign not provided 2024-10-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835499 SCV002081626 uncertain significance Mitochondrial neurogastrointestinal encephalomyopathy 2020-02-13 no assertion criteria provided clinical testing

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