ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.1188-3C>T

gnomAD frequency: 0.00001  dbSNP: rs1194452034
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002248266 SCV002520280 uncertain significance not provided 2021-11-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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