ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.778G>A (p.Glu260Lys) (rs80358274)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001794461 SCV002032547 uncertain significance not provided 2021-06-07 criteria provided, single submitter clinical testing Identified in a patient with sensorineural hearing loss, however, family history and segregation information were not provided (Hildebrand et al., 2008); Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26036578, 27535533, 18941426, 31995783)
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000655886 SCV000777815 pathogenic Autosomal dominant nonsyndromic hearing loss 2A 2015-08-20 no assertion criteria provided literature only

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