ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.382C>A (p.Gln128Lys)

gnomAD frequency: 0.10827  dbSNP: rs41305539
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037076 SCV000060732 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Gln105Lys in Exon 06 of TJP2: This variant is not expected to have clinical sign ificance because it has been identified in 30.0% (1119/3736) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs41305539).
Preventiongenetics, part of Exact Sciences RCV000037076 SCV000310690 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000037076 SCV000339738 benign not specified 2017-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000037076 SCV000717169 benign not specified 2017-08-03 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.
Invitae RCV002054637 SCV002405753 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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