ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5550C>T (p.Ala1850=)

gnomAD frequency: 0.00004  dbSNP: rs374451515
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468933 SCV000559907 likely benign Adams-Oliver syndrome 5 2023-11-28 criteria provided, single submitter clinical testing
GeneDx RCV001721529 SCV000719817 likely benign not provided 2021-09-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171094 SCV001333772 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-04-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000468933 SCV002554287 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270533 SCV002554288 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001171094 SCV002649437 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-03-10 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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