ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4860C>T (p.Tyr1620=)

gnomAD frequency: 0.00009  dbSNP: rs375196212
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696787 SCV000535581 likely benign not provided 2021-06-04 criteria provided, single submitter clinical testing
Invitae RCV000655293 SCV000777223 likely benign Adams-Oliver syndrome 5 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000655293 SCV002554367 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270483 SCV002554368 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003168703 SCV003861090 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-12-01 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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