ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1554G>T (p.Ala518=)

gnomAD frequency: 0.01593  dbSNP: rs34487963
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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 RCV000538949 SCV000656508 benign Developmental and epileptic encephalopathy, 30 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311885 SCV000846712 benign Inborn genetic diseases 2016-06-14 criteria provided, single submitter clinical testing This alteration is classified as 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.
Breakthrough Genomics, Breakthrough Genomics RCV004714078 SCV005276694 benign not provided criteria provided, single submitter not provided

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