ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3579G>A (p.Gln1193=)

dbSNP: rs61751544
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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 RCV001451065 SCV001654685 likely benign Adams-Oliver syndrome 5 2024-09-03 criteria provided, single submitter clinical testing
GeneDx RCV001587417 SCV001815390 likely benign not provided 2020-03-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001451065 SCV002554491 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271243 SCV002554492 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456762 SCV002613578 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-08-24 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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