ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.1185G>A (p.Leu395=)

gnomAD frequency: 0.00007  dbSNP: rs748898877
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001512517 SCV001719947 benign not provided 2024-01-14 criteria provided, single submitter clinical testing
GeneDx RCV001512517 SCV001862420 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832682 SCV002081619 likely benign Mitochondrial neurogastrointestinal encephalomyopathy 2020-02-29 no assertion criteria provided clinical testing

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