ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser)

gnomAD frequency: 0.01511  dbSNP: rs61751542
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230241 SCV000290274 benign Adams-Oliver syndrome 5 2024-02-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000121684 SCV000333221 benign not specified 2015-08-03 criteria provided, single submitter clinical testing
GeneDx RCV000121684 SCV000527984 benign not specified 2016-10-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002312813 SCV000738330 benign Familial thoracic aortic aneurysm and aortic dissection 2015-02-11 criteria provided, single submitter clinical testing This alteration is classified as 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.
Genome-Nilou Lab RCV000230241 SCV002554431 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269859 SCV002554432 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505066 SCV002806408 benign Aortic valve disease 1; Adams-Oliver syndrome 5 2021-11-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114267 SCV003800246 benign not provided 2023-11-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000121684 SCV004029571 likely benign not specified 2023-07-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV002312813 SCV004239530 benign Familial thoracic aortic aneurysm and aortic dissection 2022-11-07 criteria provided, single submitter clinical testing
ITMI RCV000121684 SCV000085882 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000121684 SCV001799686 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000121684 SCV001809279 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000121684 SCV001926993 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000121684 SCV001958687 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000121684 SCV002038489 benign not specified no assertion criteria provided clinical testing
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology RCV002284189 SCV002573650 pathogenic Myeloproliferative neoplasm, unclassifiable 2022-08-25 flagged submission clinical testing

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