ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1682C>T (p.Thr561Met)

gnomAD frequency: 0.00007  dbSNP: rs560030759
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687258 SCV000814817 benign Adams-Oliver syndrome 5 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397373 SCV002712854 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-08 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.
Fulgent Genetics, Fulgent Genetics RCV002493151 SCV002797669 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2021-08-23 criteria provided, single submitter clinical testing

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