ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.242GCC[3] (p.Arg82dup)

dbSNP: rs769859021
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001948826 SCV002215046 uncertain significance not provided 2022-01-04 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with KCNQ4-related conditions. This variant is present in population databases (rs769859021, gnomAD 0.007%). This variant, c.245_247dup, results in the insertion of 1 amino acid(s) of the KCNQ4 protein (p.Arg82dup), but otherwise preserves the integrity of the reading frame.
GeneDx RCV001948826 SCV003933459 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003446956 SCV004173064 uncertain significance Autosomal dominant nonsyndromic hearing loss 2A 2023-04-11 criteria provided, single submitter clinical testing

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