ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1088G>A (p.Arg363Gln)

gnomAD frequency: 0.00011  dbSNP: rs528905001
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001033973 SCV001197296 likely benign Developmental and epileptic encephalopathy, 30 2024-08-07 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001287960 SCV001474730 uncertain significance not provided 2019-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002552047 SCV003568700 likely benign Inborn genetic diseases 2021-08-17 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.

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