ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2295C>T (p.Gly765=)

gnomAD frequency: 0.00008  dbSNP: rs144066379
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698101 SCV000726821 likely benign not provided 2019-05-30 criteria provided, single submitter clinical testing
Invitae RCV003586203 SCV004274848 benign Adams-Oliver syndrome 5 2023-12-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994044 SCV004813134 benign not specified 2024-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024983 SCV005027203 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-10-15 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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