ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2325C>T (p.Tyr775=)

gnomAD frequency: 0.00041  dbSNP: rs749686245
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000865910 SCV001006937 benign Adams-Oliver syndrome 5 2023-11-28 criteria provided, single submitter clinical testing
GeneDx RCV001567532 SCV001791237 likely benign not provided 2019-06-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000865910 SCV002554964 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271090 SCV002554966 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307605 SCV003999857 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-03-23 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.
Breakthrough Genomics, Breakthrough Genomics RCV001567532 SCV005228703 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001567532 SCV001807106 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001567532 SCV001932438 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001567532 SCV001957073 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001567532 SCV001970784 likely benign not provided no assertion criteria provided clinical testing

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