ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6069C>T (p.Ala2023=)

gnomAD frequency: 0.00002  dbSNP: rs375920679
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001707754 SCV000718553 likely benign not provided 2018-04-11 criteria provided, single submitter clinical testing
Invitae RCV001454557 SCV001658287 likely benign Adams-Oliver syndrome 5 2023-12-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001454557 SCV002554237 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270765 SCV002554240 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160085 SCV003861522 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-12-17 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.
CeGaT Center for Human Genetics Tuebingen RCV001707754 SCV004161997 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing NOTCH1: BP4, BP7

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