ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.495T>C (p.Asn165=)

gnomAD frequency: 0.00005  dbSNP: rs372889443
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000981961 SCV001129970 likely benign not provided 2023-11-02 criteria provided, single submitter clinical testing
GeneDx RCV000981961 SCV001791857 likely benign not provided 2020-05-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003936228 SCV004751522 likely benign TYMP-related disorder 2019-06-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001836052 SCV002081630 likely benign Mitochondrial neurogastrointestinal encephalomyopathy 2020-04-03 no assertion criteria provided clinical testing

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