ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.3063C>T (p.Ala1021=) (rs367977493)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155439 SCV000205129 likely benign not specified 2014-06-03 criteria provided, single submitter clinical testing Ala1021Ala in Exon 21A of TJP2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 2/8600 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727384 SCV000708062 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing

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