ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.906C>T (p.Gly302=)

gnomAD frequency: 0.00615  dbSNP: rs113379599
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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 RCV001083722 SCV000656530 benign Developmental and epileptic encephalopathy, 30 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713294 SCV000843883 benign not provided 2017-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311891 SCV000846857 benign Inborn genetic diseases 2016-06-21 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 RCV000713294 SCV005278621 benign not provided criteria provided, single submitter not provided

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