ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2646G>A (p.Ala882=) (rs11788754)

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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 RCV000037074 SCV000060730 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Ala859Ala in Exon 19 of TJP2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 2.1% (145/7020) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs11788754)."
PreventionGenetics,PreventionGenetics RCV000037074 SCV000310678 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000037074 SCV000717888 likely benign not specified 2017-10-31 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.
Athena Diagnostics Inc RCV000993326 SCV001146188 benign not provided 2018-11-19 criteria provided, single submitter clinical testing

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