ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6767C>T (p.Ala2256Val)

dbSNP: rs759225800
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001341249 SCV001535109 benign Adams-Oliver syndrome 5 2023-09-21 criteria provided, single submitter clinical testing
GeneDx RCV001762570 SCV001999709 uncertain significance not provided 2019-12-02 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001341249 SCV002553280 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271222 SCV002553282 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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