ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2859G>T (p.Ser953=) (rs369972534)

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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 RCV000152027 SCV000200604 likely benign not specified 2013-09-07 criteria provided, single submitter clinical testing Ser953Ser in Exon 19E of TJP2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and it is not located within the splice consensus sequence. This variant has been identified in 0.02% (2/8598) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
PreventionGenetics,PreventionGenetics RCV000152027 SCV000310683 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000926391 SCV001071952 likely benign not provided 2018-07-23 criteria provided, single submitter clinical testing
GeneDx RCV000926391 SCV001793364 likely benign not provided 2018-06-15 no assertion criteria provided clinical testing

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