ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.61-7344G>C

gnomAD frequency: 0.00547  dbSNP: rs73450853
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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 RCV000155434 SCV000205124 benign not specified 2013-09-11 criteria provided, single submitter clinical testing Val15Leu in Exon 01D of TJP2: This variant is not expected to have clinical sign ificance because it has been identified in 1.5% (21/1384) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs73450853).
Athena Diagnostics RCV000993329 SCV001146192 benign not provided 2019-03-22 criteria provided, single submitter clinical testing
GeneDx RCV000993329 SCV001819881 likely benign not provided 2018-07-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000993329 SCV005226443 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003917527 SCV004729551 benign TJP2-related disorder 2019-03-15 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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