ClinVar Miner

Submissions for variant NM_001146079.2(CLDN14):c.406G>A (p.Val136Ile)

gnomAD frequency: 0.00112  dbSNP: rs140918123
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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) RCV000317022 SCV000341419 uncertain significance not provided 2018-06-20 criteria provided, single submitter clinical testing
Invitae RCV000317022 SCV001110351 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV000317022 SCV001816992 likely benign not provided 2019-10-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967770 SCV004776385 likely benign CLDN14-related condition 2023-09-06 criteria provided, single submitter 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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