ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.777T>C (p.Ala259=) (rs4660468)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038247 SCV000061915 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Ala259Ala in Exon 05 of KCNQ4: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 42.4% (1584/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs4660468)."
PreventionGenetics,PreventionGenetics RCV000038247 SCV000310613 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000038247 SCV000714185 benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Nilou-Genome Lab RCV000613298 SCV001980914 benign Autosomal dominant nonsyndromic hearing loss 2A 2021-08-19 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000613298 SCV000734029 benign Autosomal dominant nonsyndromic hearing loss 2A no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000038247 SCV001958628 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727535 SCV001973000 likely benign not provided no assertion criteria provided clinical testing

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