ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.850AGCCGC[3] (p.284SR[3])

dbSNP: rs760152519
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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) RCV000267156 SCV000344246 uncertain significance not provided 2016-07-26 criteria provided, single submitter clinical testing
GeneDx RCV000267156 SCV001764777 uncertain significance not provided 2020-12-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000267156 SCV003285655 likely benign not provided 2024-05-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920160 SCV004737224 likely benign TJP2-related disorder 2022-05-27 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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