ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.395C>G (p.Pro132Arg) (rs141496493)

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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 RCV000342641 SCV000340244 uncertain significance not provided 2016-03-29 criteria provided, single submitter clinical testing
Invitae RCV000342641 SCV001130162 likely benign not provided 2018-12-13 criteria provided, single submitter clinical testing
GeneDx RCV000342641 SCV001766365 likely benign not provided 2020-07-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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