ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7585G>A (p.Val2529Ile)

gnomAD frequency: 0.00004  dbSNP: rs1052013977
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543627 SCV000659497 benign Adams-Oliver syndrome 5 2022-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395495 SCV002675211 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-06-22 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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