ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5724C>T (p.Ala1908=)

gnomAD frequency: 0.00004  dbSNP: rs555773558
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001570229 SCV001794484 likely benign not provided 2021-02-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799104 SCV002043537 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-03-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271267 SCV002554265 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271266 SCV002554266 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001799104 SCV002650644 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-07-06 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.
Fulgent Genetics, Fulgent Genetics RCV002501918 SCV002804733 likely benign Aortic valve disease 1; Adams-Oliver syndrome 5 2021-11-16 criteria provided, single submitter clinical testing
Invitae RCV002271267 SCV003476267 benign Adams-Oliver syndrome 5 2023-10-22 criteria provided, single submitter clinical testing

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