ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.2028C>T (p.Asp676=)

gnomAD frequency: 0.00009  dbSNP: rs552843990
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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 RCV001195327 SCV001365673 likely benign not specified 2019-07-09 criteria provided, single submitter clinical testing The p.Asp646Asp variant in KCNQ4 is classified as likely benign because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and splice prediction algorithms do not predict a newly created splice site. This variant has also been identified in 0.06% (21/34584) of Latino chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BP4, BP7, BS1.
GeneDx RCV001549640 SCV001769825 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001549640 SCV003257849 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446648 SCV004173887 likely benign Autosomal dominant nonsyndromic hearing loss 2A 2023-04-11 criteria provided, single submitter clinical testing

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