ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.698G>A (p.Arg233Gln) (rs150883816)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152019 SCV000200590 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Arg210Gln in Exon 06 of TJP2: This variant is not expected to have clinical sign ificance because it has been identified in 0.4% (15/3710) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs150883816).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152019 SCV000342569 benign not specified 2016-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000152019 SCV000726929 likely benign not specified 2018-02-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000889706 SCV001033408 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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