Submissions for variant NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr)

gnomAD frequency: 0.01115  dbSNP: rs12720442

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000171806	SCV000050820	benign	not specified	2013-06-24	criteria provided, single submitter	research
Illumina Laboratory Services, Illumina	RCV000558412	SCV000379698	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000171806	SCV000539415	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp	RCV000558412	SCV000646997	benign	Atrial fibrillation, familial, 7	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000558412	SCV001159396	benign	Atrial fibrillation, familial, 7	2020-07-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001572727	SCV001812026	likely benign	not provided	2020-09-21	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000171806	SCV004803386	likely benign	not specified	2024-01-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001572727	SCV005213623	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572727	SCV001797530	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000171806	SCV001926066	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000171806	SCV001953885	benign	not specified		no assertion criteria provided	clinical testing