ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys)

gnomAD frequency: 0.00058  dbSNP: rs182330532
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088972 SCV000290270 likely benign Adams-Oliver syndrome 5 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV001798740 SCV000319648 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-06-08 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 RCV000484160 SCV000569748 likely benign not provided 2023-06-08 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Mayo Clinic Laboratories, Mayo Clinic RCV000484160 SCV001714335 uncertain significance not provided 2021-06-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798740 SCV002043517 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-05-28 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000484160 SCV001798281 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000484160 SCV001952841 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000484160 SCV001964376 uncertain significance not provided no assertion criteria provided clinical testing

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