ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.1657C>T (p.Leu553=) (rs55925184)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038244 SCV000061912 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Leu553Leu in Exon 12 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 5.0% (350/7020) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (; dbSNP rs55925184)."
PreventionGenetics,PreventionGenetics RCV000038244 SCV000310606 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000038244 SCV000717803 benign not specified 2017-06-01 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.
Athena Diagnostics Inc RCV000992242 SCV001144358 benign not provided 2018-11-05 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001420688 SCV001623032 benign Autosomal dominant nonsyndromic hearing loss 2A 2021-05-18 criteria provided, single submitter clinical testing

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