ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6739C>T (p.Leu2247=)

dbSNP: rs377165086
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842270 SCV000984276 likely benign not provided 2019-11-14 criteria provided, single submitter clinical testing
Invitae RCV002068613 SCV002370285 likely benign Adams-Oliver syndrome 5 2022-04-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002068613 SCV002553831 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271074 SCV002553832 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150361 SCV003838457 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-07-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003150361 SCV004051312 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-08-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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