ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.1149T>C (p.Ser383=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002452364 SCV002616429 likely benign Cardiovascular phenotype 2022-07-06 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 RCV003775685 SCV004635290 likely benign Long QT syndrome 2023-09-08 criteria provided, single submitter clinical testing

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