ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2550T>C (p.Tyr850=)

gnomAD frequency: 0.00001  dbSNP: rs969268360
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150687 SCV003838467 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-05-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003150687 SCV005142197 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-05-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005099421 SCV005816812 likely benign Adams-Oliver syndrome 5 2024-08-14 criteria provided, single submitter clinical testing

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