ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.1422C>T (p.Thr474=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004780689 SCV005390605 uncertain significance not provided 2024-03-19 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003951708 SCV004762085 likely benign KCNQ4-related disorder 2019-10-28 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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