ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.648C>T (p.Arg216=)

gnomAD frequency: 0.00005  dbSNP: rs80358269
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000020610 SCV001135234 benign Autosomal dominant nonsyndromic hearing loss 2A 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001753424 SCV001986116 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing Observed in a patient with hearing loss in published literature (Su et al., 2007); In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 17033161, 30245029, 20301388, 31434872, 24616153)
Labcorp Genetics (formerly Invitae), Labcorp RCV001753424 SCV002410123 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
GeneReviews RCV000020610 SCV000041110 not provided Autosomal dominant nonsyndromic hearing loss 2A no assertion provided literature only

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