ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.951G>T (p.Val317=)

gnomAD frequency: 0.00102  dbSNP: rs113514102
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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 RCV001086260 SCV000656533 benign Developmental and epileptic encephalopathy, 30 2024-01-10 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713297 SCV000843886 benign not provided 2017-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315036 SCV000849263 likely benign Inborn genetic diseases 2017-03-29 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 RCV000713297 SCV004153754 benign not provided 2022-04-01 criteria provided, single submitter clinical testing SIK1: BS1, BS2

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