ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.7023G>A (p.Val2341=)

gnomAD frequency: 0.00001  dbSNP: rs1278796067
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics, Academic Medical Center RCV001699981 SCV001919460 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724401 SCV001957363 likely benign not provided no assertion criteria provided clinical testing

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