ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1552G>C (p.Ala518Pro)

dbSNP: rs367547841
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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 RCV001039763 SCV001203309 likely benign Developmental and epileptic encephalopathy, 30 2023-12-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001171964 SCV001334882 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002391113 SCV002703830 likely benign Inborn genetic diseases 2023-08-04 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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