ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.546C>G (p.Phe182Leu)

gnomAD frequency: 0.00011  dbSNP: rs80358273
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521883 SCV001731302 benign not provided 2023-10-05 criteria provided, single submitter clinical testing
GeneDx RCV001521883 SCV001772370 likely benign not provided 2020-09-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20966080, 27018795, 30828794, 17033161, 25116015, 23717403, 21951272)
Mendelics RCV002247375 SCV002517231 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000655885 SCV000777814 pathogenic Autosomal dominant nonsyndromic hearing loss 2A 2015-08-20 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003952368 SCV004781532 likely benign KCNQ4-related disorder 2024-02-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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