ClinVar Miner

Submissions for variant NM_001353345.2(SETD1B):c.5824_5829del (p.Asp1942_Tyr1943del)

dbSNP: rs1877025777
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001374897 SCV001572184 likely pathogenic Neurodevelopmental disorder 2020-04-06 criteria provided, single submitter clinical testing
GeneDx RCV004789555 SCV005401549 pathogenic not provided 2024-05-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 2 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35982160, 35982159, 34345025, 25363768)

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