ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.644G>A (p.Arg215His) (rs201977617)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155290 SCV000204976 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Arg192His in Exon 06 of TJP2: This variant is not expected to have clinical sign ificance because it has been identified in 0.8% (28/3624) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155290 SCV000339968 benign not specified 2016-03-18 criteria provided, single submitter clinical testing
Invitae RCV000972798 SCV001120525 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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