ClinVar Miner

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

dbSNP: rs375772590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862916 SCV001003487 likely benign Adams-Oliver syndrome 5 2024-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390749 SCV002669025 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-10-30 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323746 SCV004029570 benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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