ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2810T>C (p.Leu937Pro) (rs28556975)

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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 RCV000155437 SCV000205127 benign not specified 2013-09-11 criteria provided, single submitter clinical testing Leu937Pro in Exon 19E of TJP2: This variant is not expected to have clinical sig nificance because it has been identified in 2.8% (125/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs28556975).
PreventionGenetics,PreventionGenetics RCV000155437 SCV000310682 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000886729 SCV001030253 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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