ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1553C>T (p.Ala518Val)

dbSNP: rs142171557
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653189 SCV000775065 benign Developmental and epileptic encephalopathy, 30 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315979 SCV000848138 likely benign Inborn genetic diseases 2021-10-22 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.
CeGaT Center for Human Genetics Tuebingen RCV004584786 SCV005075075 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing SIK1: BP4
Breakthrough Genomics, Breakthrough Genomics RCV004584786 SCV005207473 likely benign not provided criteria provided, single submitter not provided

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