ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6744C>T (p.Asn2248=)

gnomAD frequency: 0.00010  dbSNP: rs372771288
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000769584 SCV000739368 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-08-09 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680582 SCV000808002 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769584 SCV000900981 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-02-18 criteria provided, single submitter clinical testing
GeneDx RCV000842227 SCV000984228 likely benign not provided 2018-04-19 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001469649 SCV001673730 likely benign Adams-Oliver syndrome 5 2023-12-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001469649 SCV002553829 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270872 SCV002553830 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000842227 SCV004562325 likely benign not provided 2023-09-25 criteria provided, single submitter clinical testing

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