ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3861C>T (p.Arg1287=)

gnomAD frequency: 0.00002  dbSNP: rs758031388
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315110 SCV000739470 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-05-02 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 RCV001451166 SCV001654792 likely benign Adams-Oliver syndrome 5 2021-08-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001451166 SCV002554455 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270904 SCV002554456 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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