ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6090C>T (p.Ser2030=)

gnomAD frequency: 0.00005  dbSNP: rs773621396
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861873 SCV001002284 likely benign Adams-Oliver syndrome 5 2023-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352506 SCV002656284 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-01-03 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.
CeGaT Center for Human Genetics Tuebingen RCV003432792 SCV004161996 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing NOTCH1: BP4, BP7

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