ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.1478G>A (p.Arg493Lys) (rs41277901)

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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 RCV000037068 SCV000060724 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Arg470Lys in Exon 11 of TJP2: This variant is not expected to have clinical sign ificance because it has been identified in 3.6% (134/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs41277901).
GeneDx RCV000037068 SCV000726372 benign not specified 2018-02-22 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 RCV000880873 SCV001023997 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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