ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg) (rs75450131)

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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 RCV000152025 SCV000200600 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Gln856Arg in Exon 19 of TJP2: This variant is not expected to have clinical sign ificance because it has been identified in 0.7% (28/3738) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs75450131).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000152025 SCV000226785 benign not specified 2015-02-23 criteria provided, single submitter clinical testing
Invitae RCV000900846 SCV001045189 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000900846 SCV001745796 likely benign not provided 2020-11-19 criteria provided, single submitter clinical testing

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