ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.2112G>A (p.Ser704=)

gnomAD frequency: 0.00003  dbSNP: rs773124142
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317641 SCV000851268 likely benign Inborn genetic diseases 2018-01-26 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 RCV000997834 SCV001153564 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Invitae RCV001034082 SCV001197407 benign Developmental and epileptic encephalopathy, 30 2024-01-18 criteria provided, single submitter clinical testing

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