ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.2148C>T (p.Ser716=)

gnomAD frequency: 0.00001  dbSNP: rs762804357
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763959 SCV002000193 uncertain significance not provided 2020-10-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV001763959 SCV002123865 benign not provided 2023-10-29 criteria provided, single submitter clinical testing

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