ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4179C>T (p.Gly1393=)

gnomAD frequency: 0.00012  dbSNP: rs200664704
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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 RCV000660163 SCV000782157 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001576391 SCV001803565 likely benign not provided 2019-08-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270955 SCV002554426 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270954 SCV002554428 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331295 SCV002632755 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-06-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002270955 SCV004520963 benign Adams-Oliver syndrome 5 2023-10-04 criteria provided, single submitter clinical testing

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