ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1455C>T (p.Thr485=)

gnomAD frequency: 0.05232  dbSNP: rs28510483
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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 RCV000516916 SCV000615265 benign not specified 2017-06-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000556496 SCV000656501 benign Developmental and epileptic encephalopathy, 30 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311839 SCV000846503 benign Inborn genetic diseases 2016-04-18 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 RCV004712872 SCV005275252 benign not provided criteria provided, single submitter not provided

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