ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2832G>A (p.Pro944=)

gnomAD frequency: 0.00002  dbSNP: rs191634088
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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) RCV000591708 SCV000701724 uncertain significance not provided 2017-10-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000591708 SCV001043286 likely benign not provided 2023-10-11 criteria provided, single submitter clinical testing
GeneDx RCV000591708 SCV001765956 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004751608 SCV005350001 likely benign TJP2-related disorder 2024-08-20 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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