ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.948C>T (p.Gly316=)

gnomAD frequency: 0.03875  dbSNP: rs17004546
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713296 SCV000843885 benign not provided 2017-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312253 SCV000846535 benign Inborn genetic diseases 2016-02-22 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001522162 SCV001731644 benign Developmental and epileptic encephalopathy, 30 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000713296 SCV005278399 benign not provided criteria provided, single submitter not provided

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