ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4095C>T (p.Ser1365=)

gnomAD frequency: 0.00017  dbSNP: rs202023240
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000869379 SCV001010801 benign Adams-Oliver syndrome 5 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001593087 SCV001817094 likely benign not provided 2020-01-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000869379 SCV002554435 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271097 SCV002554436 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002320002 SCV002629323 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-06-27 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001593087 SCV001929095 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001593087 SCV001964950 likely benign not provided no assertion criteria provided clinical testing

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