ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2754C>T (p.Asn918=)

gnomAD frequency: 0.00003  dbSNP: rs373787791
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001474516 SCV001678687 likely benign Adams-Oliver syndrome 5 2023-04-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003130524 SCV003815973 uncertain significance not provided 2022-03-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004641654 SCV005142127 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-06-12 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005408920 SCV006074142 benign not specified 2025-04-11 criteria provided, single submitter clinical testing

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