ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.2049G>A (p.Pro683=)

gnomAD frequency: 0.00067  dbSNP: rs373872652
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540526 SCV000656514 benign Developmental and epileptic encephalopathy, 30 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315033 SCV000847886 likely benign Inborn genetic diseases 2016-08-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen RCV003437286 SCV004153740 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing SIK1: BP4, BP7

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