ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.1665G>A (p.Pro555=)

gnomAD frequency: 0.03837  dbSNP: rs55964611
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038245 SCV000061913 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Pro555Pro 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 3.9% (276/7020) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs55964611)."
PreventionGenetics, part of Exact Sciences RCV000038245 SCV000310607 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000038245 SCV000732322 benign not specified 2017-09-08 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 RCV000992243 SCV001144359 benign not provided 2018-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000992243 SCV002391526 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445109 SCV004173842 benign Autosomal dominant nonsyndromic hearing loss 2A 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000992243 SCV005288291 benign not provided criteria provided, single submitter not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000038245 SCV001956517 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000038245 SCV001974414 benign not specified no assertion criteria provided clinical testing

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