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
Labcorp Genetics (formerly Invitae), Labcorp RCV003546686 SCV004270494 likely benign not provided 2023-08-10 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001261738 SCV001439054 likely pathogenic Moyamoya angiopathy with developmental delay no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004548111 SCV004762880 likely benign SETD5-related disorder 2023-11-20 no assertion criteria provided 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).

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