ClinVar Miner

Submissions for variant NM_001353345.2(SETD1B):c.1853T>C (p.Val618Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003390326 SCV004134614 uncertain significance not provided 2023-04-01 criteria provided, single submitter clinical testing SETD1B: PP2, BP4
Ambry Genetics RCV004961301 SCV005495642 likely benign Inborn genetic diseases 2024-07-26 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.

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