ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3831C>T (p.Asp1277=)

gnomAD frequency: 0.00044  dbSNP: rs374989581
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546407 SCV000659431 benign Adams-Oliver syndrome 5 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315048 SCV000739419 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-04-08 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.
GeneDx RCV001550119 SCV001770403 likely benign not provided 2019-01-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000546407 SCV002554465 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270693 SCV002554466 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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