ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His)

gnomAD frequency: 0.00092  dbSNP: rs138504021
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000234523 SCV000290244 likely benign Adams-Oliver syndrome 5 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000769600 SCV000319430 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-02-01 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.
GeneDx RCV001704035 SCV000531887 likely benign not provided 2021-02-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327, 28387797)
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660145 SCV000782139 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769600 SCV000900997 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-09-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000234523 SCV002555025 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269848 SCV002555026 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001704035 SCV003917745 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing NOTCH1: BS1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001704035 SCV004562174 likely benign not provided 2023-08-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001704035 SCV005228707 likely benign not provided criteria provided, single submitter not provided
ITMI RCV000121660 SCV000085858 not provided not specified 2013-09-19 no assertion provided reference population

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