Submissions for variant NM_004700.4(KCNQ4):c.465A>C (p.Gly155=)

gnomAD frequency: 0.00082  dbSNP: rs145129529

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155136	SCV000204822	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Gly155Gly in Exon 03 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 0.1% (8/7020) of Euro pean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs145129529).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000956489	SCV001103253	benign	not provided	2024-12-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000956489	SCV001771849	likely benign	not provided	2020-03-17	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003445585	SCV004173120	likely benign	Autosomal dominant nonsyndromic hearing loss 2A	2023-04-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000956489	SCV004698646	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	KCNQ4: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003937453	SCV004749601	likely benign	KCNQ4-related disorder	2019-08-02	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).