ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.6556T>C (p.Ser2186Pro) (rs76177450)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243812 SCV000318603 likely benign Cardiovascular phenotype 2017-09-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171722 SCV000055232 likely benign not provided 2013-06-24 criteria provided, single submitter research
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624953 SCV000743175 likely benign Long QT syndrome 11 2014-10-09 criteria provided, single submitter clinical testing
Invitae RCV000205867 SCV000261246 benign Long QT syndrome 2017-11-02 criteria provided, single submitter clinical testing

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