ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4143C>T (p.Pro1381=)

gnomAD frequency: 0.00004  dbSNP: rs539950718
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001463533 SCV001667479 likely benign Adams-Oliver syndrome 5 2023-12-21 criteria provided, single submitter clinical testing
GeneDx RCV000655277 SCV001793811 likely benign not provided 2020-05-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001463533 SCV002554429 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270947 SCV002554430 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331279 SCV002628926 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-10-02 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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