ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7536G>A (p.Pro2512=)

gnomAD frequency: 0.00064  dbSNP: rs192299793
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000559954 SCV000659495 benign Adams-Oliver syndrome 5 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001707741 SCV000720340 likely benign not provided 2021-09-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315060 SCV000738452 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-03-17 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.
Genome-Nilou Lab RCV000559954 SCV002553755 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270712 SCV002553756 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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