ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6396G>C (p.Thr2132=)

dbSNP: rs554843595
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721451 SCV000534612 likely benign not provided 2020-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313143 SCV000739423 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-08-27 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 RCV000862398 SCV001002901 benign Adams-Oliver syndrome 5 2024-01-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000862398 SCV002553866 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270468 SCV002553867 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323542 SCV004029548 benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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