ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.1668C>T (p.Tyr556=)

gnomAD frequency: 0.00010  dbSNP: rs140945833
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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 RCV000150881 SCV000198453 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Tyr556Tyr in Exon 12 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 1/3738 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs140945833).
GeneDx RCV001558491 SCV001780447 likely benign not provided 2020-11-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445564 SCV004173853 likely benign Autosomal dominant nonsyndromic hearing loss 2A 2023-04-11 criteria provided, single submitter clinical testing

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