ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.3342T>C (p.His1114=)

gnomAD frequency: 0.00157  dbSNP: rs61753629
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Total submissions: 6
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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 RCV000152031 SCV000200612 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "His944His in Exon 21 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 0.4% (14/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs61753629)."
Eurofins Ntd Llc (ga) RCV000152031 SCV000340142 benign not specified 2016-04-04 criteria provided, single submitter clinical testing
GeneDx RCV000840155 SCV000982072 likely benign not provided 2021-01-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000840155 SCV002480817 benign not provided 2023-12-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000840155 SCV005226456 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003975185 SCV004787262 likely benign TJP2-related disorder 2020-02-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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