ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1953C>T (p.Asp651=)

gnomAD frequency: 0.00002  dbSNP: rs752168856
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000862234 SCV000532273 likely benign not provided 2021-02-09 criteria provided, single submitter clinical testing
Invitae RCV001476758 SCV001680971 likely benign Adams-Oliver syndrome 5 2023-12-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001476758 SCV002555008 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270434 SCV002555011 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418320 SCV002718075 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-03-24 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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