ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=)

gnomAD frequency: 0.00070  dbSNP: rs73668312
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002310964 SCV000319664 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-05-21 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.
Invitae RCV000524749 SCV000659464 benign Adams-Oliver syndrome 5 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV001580093 SCV000728224 likely benign not provided 2021-06-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000524749 SCV002554289 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270166 SCV002554290 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330612 SCV004038999 benign not specified 2023-08-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542945 SCV004761633 likely benign NOTCH1-related disorder 2019-12-10 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580093 SCV001809651 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001580093 SCV001931405 likely benign not provided no assertion criteria provided clinical testing

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