ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5916C>T (p.Asp1972=)

gnomAD frequency: 0.00002  dbSNP: rs1045892978
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554819 SCV000659469 likely benign Adams-Oliver syndrome 5 2024-12-17 criteria provided, single submitter clinical testing
GeneDx RCV001662609 SCV001872738 likely benign not provided 2020-11-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000554819 SCV002554252 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270703 SCV002554253 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358627 SCV002653336 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-07-06 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 RCV003994017 SCV004813130 likely benign not specified 2024-02-04 criteria provided, single submitter clinical testing

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