ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.631C>T (p.Arg211Cys)

gnomAD frequency: 0.00002  dbSNP: rs771622774
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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) RCV000730598 SCV000858346 uncertain significance not provided 2017-11-22 criteria provided, single submitter clinical testing
GeneDx RCV000730598 SCV002000380 uncertain significance not provided 2021-04-13 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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