ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2992-8C>T (rs143965233)

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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 RCV000038251 SCV000061919 likely benign not specified 2013-02-07 criteria provided, single submitter clinical testing 2992-8C>T in intron 20A of TJP2: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (29/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS/; dbSNP rs143965233).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038251 SCV000332339 benign not specified 2015-06-18 criteria provided, single submitter clinical testing
GeneDx RCV000038251 SCV000722164 likely benign not specified 2017-08-30 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 RCV000909451 SCV001054257 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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