ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser) (rs17215409)

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Total submissions: 5
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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
Invitae RCV000549885 SCV000647005 likely benign Atrial fibrillation, familial, 7 2020-12-07 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)
Clinical Genetics,Academic Medical Center RCV001699140 SCV001923734 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001589050 SCV001954525 likely benign not provided no assertion criteria provided clinical testing

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