ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2691C>T (p.Pro897=) (rs149969431)

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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 RCV000155436 SCV000205126 benign not specified 2013-11-19 criteria provided, single submitter clinical testing Pro897Pro in Exon 19E 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 0.7% (29/4406) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs149969431).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155436 SCV000706862 likely benign not specified 2017-03-13 criteria provided, single submitter clinical testing
Invitae RCV000884250 SCV001027614 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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