ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.176C>T (p.Pro59Leu)

gnomAD frequency: 0.00009  dbSNP: rs775420649
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000905703 SCV001050296 benign not provided 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000905703 SCV001767738 likely benign not provided 2021-04-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446526 SCV004173053 likely benign Autosomal dominant nonsyndromic hearing loss 2A 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968312 SCV004794563 benign KCNQ4-related disorder 2020-02-03 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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