ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.608G>A (p.Arg203His)

dbSNP: rs182763411
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087556 SCV000548926 likely benign Adams-Oliver syndrome 5 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000841472 SCV000983440 likely benign not provided 2021-05-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001087556 SCV002555129 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269868 SCV002555130 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354306 SCV002659931 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-31 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
ITMI RCV000121708 SCV000085906 not provided not specified 2013-09-19 no assertion provided reference population

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