ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.2347-38A>G

gnomAD frequency: 0.65124  dbSNP: rs2648580
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001618051 SCV001846298 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807449 SCV002055138 benign Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618051 SCV005238616 benign not provided criteria provided, single submitter not provided

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