ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.1292+12G>A

gnomAD frequency: 0.00200  dbSNP: rs200426006
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Total submissions: 4
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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 RCV000222365 SCV000270317 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing 1292+12G>A in Intron 09 of KCNQ4: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 0.5% (17/3628) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS).
GeneDx RCV001547799 SCV001767590 likely benign not provided 2020-07-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001547799 SCV002330581 benign not provided 2024-10-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445699 SCV004173731 benign Autosomal dominant nonsyndromic hearing loss 2A 2023-04-11 criteria provided, single submitter clinical testing

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