ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.610G>A (p.Asp204Asn) (rs148920964)

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Total submissions: 4
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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 RCV000170641 SCV000050628 likely benign not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV000251693 SCV000318765 uncertain significance Cardiovascular phenotype 2013-07-31 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Insufficient or conflicting evidence;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV001080679 SCV000563332 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477753 SCV000536914 uncertain significance Long QT syndrome 11 2016-05-24 no assertion criteria provided research

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