ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=)

gnomAD frequency: 0.00011  dbSNP: rs758702512
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680585 SCV000808006 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000865331 SCV001006277 likely benign Adams-Oliver syndrome 5 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001549628 SCV001769811 likely benign not provided 2021-02-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000865331 SCV002554241 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270960 SCV002554242 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003343986 SCV004074299 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-07-27 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.

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