ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.675G>A (p.Ser225=)

gnomAD frequency: 0.00001  dbSNP: rs1334701310
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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 RCV002096312 SCV002397979 likely benign Adams-Oliver syndrome 5 2024-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045865 SCV005027287 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-11-08 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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