ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.1413T>C (p.Gly471=)

gnomAD frequency: 0.00041  dbSNP: rs144810195
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Total submissions: 3
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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 RCV000216153 SCV000270318 likely benign not specified 2015-07-20 criteria provided, single submitter clinical testing p.Gly471Gly in Exon 10 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 0.18% (13/7302) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs144810195).
Labcorp Genetics (formerly Invitae), Labcorp RCV000970045 SCV001117599 likely benign not provided 2018-11-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445700 SCV004173765 likely benign Autosomal dominant nonsyndromic hearing loss 2A 2023-04-11 criteria provided, single submitter clinical testing

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