ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.210C>T (p.Asn70=)

gnomAD frequency: 0.00003  dbSNP: rs763414200
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769617 SCV000901014 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061044 SCV002337027 likely benign Adams-Oliver syndrome 5 2024-12-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002061044 SCV002555164 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271028 SCV002555166 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000769617 SCV002726965 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-12 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.

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