ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.1231C>T (p.Arg411Cys)

gnomAD frequency: 0.00153  dbSNP: rs199809248
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Total submissions: 6
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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 RCV000825178 SCV000966451 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Arg411Cys in Exon 09 of KCNQ4: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (13/3694) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS).
Labcorp Genetics (formerly Invitae), Labcorp RCV000880573 SCV001023679 benign not provided 2023-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000880573 SCV001819721 likely benign not provided 2021-06-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446467 SCV004173687 likely benign Autosomal dominant nonsyndromic hearing loss 2A 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908116 SCV004727345 likely benign KCNQ4-related disorder 2019-08-12 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).
Breakthrough Genomics, Breakthrough Genomics RCV000880573 SCV005260164 likely benign not provided criteria provided, single submitter not provided

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