ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.908C>T (p.Pro303Leu) (rs199641113)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000333360 SCV000342106 uncertain significance not provided 2017-07-10 criteria provided, single submitter clinical testing
Invitae RCV000333360 SCV001040344 likely benign not provided 2018-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000333360 SCV001785441 uncertain significance not provided 2020-10-01 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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