ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.1188C>T (p.Pro396=)

gnomAD frequency: 0.00222  dbSNP: rs189541861
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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 RCV000038242 SCV000061910 benign not specified 2015-04-30 criteria provided, single submitter clinical testing p.Pro396Pro in exon 09 of KCNQ4: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.7% (55/8302) of E uropean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs189541861).
GeneDx RCV000882084 SCV000732321 likely benign not provided 2021-04-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 10571947)
Labcorp Genetics (formerly Invitae), Labcorp RCV000882084 SCV001025302 benign not provided 2023-12-11 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000882084 SCV001144356 benign not provided 2018-11-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000882084 SCV002496862 benign not provided 2023-08-01 criteria provided, single submitter clinical testing KCNQ4: BP4, BS1, BS2
Genome-Nilou Lab RCV003445108 SCV004173642 likely benign Autosomal dominant nonsyndromic hearing loss 2A 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952436 SCV004766769 likely benign KCNQ4-related disorder 2020-01-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000038242 SCV001957209 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000882084 SCV001965856 likely benign not provided no assertion criteria provided clinical testing

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