ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=)

gnomAD frequency: 0.01759  dbSNP: rs2229970
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226163 SCV000290247 benign Adams-Oliver syndrome 5 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002310825 SCV000319521 benign Familial thoracic aortic aneurysm and aortic dissection 2015-05-21 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.
GeneDx RCV000421870 SCV000529310 benign not specified 2016-09-28 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 RCV000226163 SCV002554978 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270034 SCV002554979 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500803 SCV002805516 benign Aortic valve disease 1; Adams-Oliver syndrome 5 2022-04-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000421870 SCV003933958 benign not specified 2023-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736662 SCV004562102 benign not provided 2023-10-16 criteria provided, single submitter clinical testing

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