ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6768G>A (p.Ala2256=)

gnomAD frequency: 0.00001  dbSNP: rs575575412
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606494 SCV000726918 likely benign not specified 2018-01-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002528614 SCV003285484 likely benign Adams-Oliver syndrome 5 2023-10-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000606494 SCV004029562 likely benign not specified 2023-07-29 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003485616 SCV004239541 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-09-15 criteria provided, single submitter clinical testing

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