ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2367A>G (p.Ala789=) (rs75668442)

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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 RCV000152024 SCV000200599 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Ala766Ala in Exon 18 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 4.2% (156/3738) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs75668442)."
PreventionGenetics,PreventionGenetics RCV000152024 SCV000310675 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000907835 SCV001052563 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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