ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.-4A>G

gnomAD frequency: 0.00009  dbSNP: rs571316178
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594925 SCV000705969 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952979 SCV004767255 likely benign TYMP-related disorder 2019-12-31 no assertion criteria provided 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).

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