ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.1572C>T (p.Asp524=)

gnomAD frequency: 0.00023  dbSNP: rs568177070
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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 RCV000605475 SCV000711088 likely benign not specified 2016-06-23 criteria provided, single submitter clinical testing p.Asp524Asp in Exon 11 of KCNQ4: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 13/66394 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs142739074).
Labcorp Genetics (formerly Invitae), Labcorp RCV002532722 SCV003510829 likely benign not provided 2021-12-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446174 SCV004173831 likely benign Autosomal dominant nonsyndromic hearing loss 2A 2023-04-11 criteria provided, single submitter clinical testing

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