ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.10459G>A (p.Glu3487Lys) (rs61757664)

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Total submissions: 6
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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 RCV000171729 SCV000050741 likely benign not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV000250716 SCV000319171 likely benign Cardiovascular phenotype 2019-01-28 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Illumina Clinical Services Laboratory,Illumina RCV000361837 SCV000470341 uncertain significance Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000304827 SCV000752832 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000171729 SCV001155131 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Division of Human Genetics,Children's Hospital of Philadelphia RCV000185546 SCV000238428 uncertain significance Long QT syndrome 11 2014-12-19 no assertion criteria provided research The heterozygous variant in the AKAP9 gene (c.10459G>A; p.Glu3487Lys) is considered a VUS as this specific variant has not been previously published in the literature but has been seen in 66 individuals in the ExAC database (out of 122834 screened at this position). The amino acid change is non-conservative while the position is conserved only in mammals while the nucleotide position is moderately conserved.

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