Submissions for variant NM_002234.4(KCNA5):c.929C>T (p.Pro310Leu)

gnomAD frequency: 0.00439  dbSNP: rs17215402

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000171807	SCV000050686	benign	not specified	2013-06-24	criteria provided, single submitter	research
Invitae	RCV000528756	SCV000647006	benign	Atrial fibrillation, familial, 7	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000528756	SCV001268555	likely benign	Atrial fibrillation, familial, 7	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000528756	SCV001472277	likely benign	Atrial fibrillation, familial, 7	2021-01-12	criteria provided, single submitter	clinical testing
GeneDx	RCV001610480	SCV001834850	benign	not provided	2018-11-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000171807	SCV004121876	likely benign	not specified	2023-10-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001610480	SCV004132401	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	KCNA5: BS2
PreventionGenetics, part of Exact Sciences	RCV003917589	SCV004734033	benign	KCNA5-related condition	2019-08-07	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).
Clinical Genetics, Academic Medical Center	RCV000171807	SCV001922750	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000171807	SCV001929082	benign	not specified		no assertion criteria provided	clinical testing