ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.2591dup (p.Ser865fs)

dbSNP: rs2044336029
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001257623 SCV001434433 likely pathogenic Autism spectrum disorder 2020-04-20 criteria provided, single submitter clinical testing

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