ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.610G>A (p.Asp204Asn)

gnomAD frequency: 0.00011  dbSNP: rs148920964
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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 RCV000170641 SCV000050628 likely benign not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV000251693 SCV000318765 likely benign Cardiovascular phenotype 2020-06-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001080679 SCV000563332 likely benign Long QT syndrome 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000477753 SCV002800045 likely benign Long QT syndrome 11 2021-10-14 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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