ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.438G>A (p.Glu146=)

gnomAD frequency: 0.00025  dbSNP: rs144434662
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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 RCV000155135 SCV000204821 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Glu146Glu in Exon 03 of KCNQ4: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 3/7020 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs144434662).
Labcorp Genetics (formerly Invitae), Labcorp RCV000882083 SCV001025301 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000882083 SCV001795705 likely benign not provided 2020-09-17 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003445584 SCV004173109 likely benign Autosomal dominant nonsyndromic hearing loss 2A 2023-04-11 criteria provided, single submitter clinical testing

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