ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.3405G>A (p.Thr1135=)

gnomAD frequency: 0.00003  dbSNP: rs771190188
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594535 SCV000709413 uncertain significance not provided 2017-06-15 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001662645 SCV001879948 benign not specified 2021-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000594535 SCV003289013 likely benign not provided 2023-12-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962729 SCV004783536 likely benign TJP2-related disorder 2022-09-15 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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