Submissions for variant NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser)

gnomAD frequency: 0.00241  dbSNP: rs17215409

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000171656	SCV000050685	uncertain significance	altered potassium channel function	2013-06-24	criteria provided, single submitter	research
Labcorp Genetics (formerly Invitae), Labcorp	RCV000549885	SCV000647005	likely benign	Atrial fibrillation, familial, 7	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001589050	SCV001825802	likely benign	not provided	2020-12-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16411137, 24068186, 22402074, 21507821, 18209767, 15735608)
CeGaT Center for Human Genetics Tuebingen	RCV001589050	SCV004132400	benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	KCNA5: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000549885	SCV004564117	likely benign	Atrial fibrillation, familial, 7	2023-10-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001699140	SCV005039705	likely benign	not specified	2024-03-30	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699140	SCV001923734	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001589050	SCV001954525	likely benign	not provided		no assertion criteria provided	clinical testing
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine	RCV002285149	SCV002575038	likely benign	Pulmonary arterial hypertension	2022-09-26	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003907539	SCV004722424	likely benign	KCNA5-related disorder	2019-07-16	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).