ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.2299C>T (p.Arg767Cys)

gnomAD frequency: 0.00009  dbSNP: rs183911558
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002246255 SCV002519324 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491868 SCV002789293 uncertain significance Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2021-12-10 criteria provided, single submitter clinical testing
Invitae RCV003546686 SCV004270494 likely benign not provided 2023-08-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945951 SCV004762880 likely benign SETD5-related condition 2023-11-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
University of Washington Center for Mendelian Genomics, University of Washington RCV001261738 SCV001439054 likely pathogenic Moyamoya angiopathy with developmental delay no assertion criteria provided research

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