ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.4824C>T (p.Ile1608=)

gnomAD frequency: 0.00011  dbSNP: rs747713348
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001574685 SCV001801549 uncertain significance not provided 2023-07-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this variant does not alter splicing
Labcorp Genetics (formerly Invitae), Labcorp RCV001574685 SCV002395818 likely benign not provided 2024-02-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003966214 SCV004781475 likely benign TECTA-related disorder 2019-08-26 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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