ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2577G>A (p.Thr859=)

gnomAD frequency: 0.00001  dbSNP: rs747189377
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001069540 SCV001234714 benign Adams-Oliver syndrome 5 2023-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649454 SCV005142150 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-03-20 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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