ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6684C>T (p.Ser2228=)

gnomAD frequency: 0.00003  dbSNP: rs369358839
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002367029 SCV002663526 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-08-28 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 RCV003098330 SCV003286232 likely benign Adams-Oliver syndrome 5 2024-01-22 criteria provided, single submitter clinical testing

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