ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4101G>A (p.Pro1367=)

gnomAD frequency: 0.00007  dbSNP: rs374921637
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000655275 SCV000724955 likely benign not provided 2019-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001448249 SCV001651332 likely benign Adams-Oliver syndrome 5 2024-12-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001448249 SCV002554433 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270821 SCV002554434 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325171 SCV002631449 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-10 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.
Fulgent Genetics, Fulgent Genetics RCV002491273 SCV002803426 likely benign Aortic valve disease 1; Adams-Oliver syndrome 5 2021-11-02 criteria provided, single submitter clinical testing

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