ClinVar Miner

Submissions for variant NM_001353345.2(SETD1B):c.3541G>T (p.Val1181Leu)

dbSNP: rs1332815208
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003300439 SCV003990984 likely benign Inborn genetic diseases 2023-06-07 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005399317 SCV006055574 uncertain significance Intellectual developmental disorder with seizures and language delay 2021-07-30 criteria provided, single submitter research

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