ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.334G>A (p.Ala112Thr)

gnomAD frequency: 0.00010  dbSNP: rs144396411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734217 SCV000862341 uncertain significance not provided 2018-07-09 criteria provided, single submitter clinical testing
Invitae RCV000734217 SCV001630150 likely benign not provided 2023-10-30 criteria provided, single submitter clinical testing
GeneDx RCV000734217 SCV001825409 uncertain significance not provided 2019-08-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 32942997, 24752540)

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