ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.750C>A (p.Thr250=)

dbSNP: rs375772590
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530247 SCV000659493 likely benign Adams-Oliver syndrome 5 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315059 SCV000738371 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-07-09 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.
GeneDx RCV001591308 SCV001823499 likely benign not provided 2020-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000530247 SCV002555111 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270711 SCV002555112 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323618 SCV004029569 benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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