ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.711C>T (p.Gly237=)

gnomAD frequency: 0.01860  dbSNP: rs61751557
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178308 SCV000230365 benign not specified 2015-01-20 criteria provided, single submitter clinical testing
Invitae RCV000228554 SCV000290305 benign Adams-Oliver syndrome 5 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002310743 SCV000319488 benign Familial thoracic aortic aneurysm and aortic dissection 2015-04-16 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV000178308 SCV000532976 benign not specified 2016-10-14 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.
Genome-Nilou Lab RCV000228554 SCV002555117 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269962 SCV002555118 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492781 SCV002805462 benign Aortic valve disease 1; Adams-Oliver syndrome 5 2021-07-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000178308 SCV004029549 benign not specified 2023-07-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736622 SCV004563023 benign not provided 2023-03-14 criteria provided, single submitter clinical testing

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