ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.859_861del (p.Pro287del)

gnomAD frequency: 0.00195  dbSNP: rs374476526
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653200 SCV000775076 likely benign Developmental and epileptic encephalopathy, 30 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317898 SCV000850020 benign Inborn genetic diseases 2018-12-18 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV003432711 SCV004153756 benign not provided 2022-04-01 criteria provided, single submitter clinical testing SIK1: BS1, BS2

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