ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2982C>T (p.Asn994=)

gnomAD frequency: 0.00012  dbSNP: rs374100421
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000863972 SCV001004708 likely benign Adams-Oliver syndrome 5 2023-11-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170154 SCV001332704 benign Familial thoracic aortic aneurysm and aortic dissection 2018-04-12 criteria provided, single submitter clinical testing
GeneDx RCV001550167 SCV001770455 likely benign not provided 2021-04-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000863972 SCV002554548 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271087 SCV002554550 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001170154 SCV002746299 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-02-20 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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