ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.3246A>G (p.Ser1082=)

gnomAD frequency: 0.00021  dbSNP: rs760173622
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620609 SCV000737451 likely benign Cardiovascular phenotype 2015-10-22 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000063 SCV000883384 benign Long QT syndrome 11 2018-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517667 SCV001726210 benign Long QT syndrome 2022-10-19 criteria provided, single submitter clinical testing
GeneDx RCV000755803 SCV001794532 likely benign not provided 2019-11-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001000063 SCV002524826 benign Long QT syndrome 11 2021-12-05 criteria provided, single submitter clinical testing

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