ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4410C>T (p.His1470=)

gnomAD frequency: 0.00001  dbSNP: rs750183248
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698407 SCV000726588 likely benign not provided 2021-01-04 criteria provided, single submitter clinical testing
Invitae RCV001487171 SCV001691655 likely benign Adams-Oliver syndrome 5 2023-12-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001487171 SCV002554409 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270841 SCV002554410 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331072 SCV002629154 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-09-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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