ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4551C>T (p.Asp1517=)

gnomAD frequency: 0.00007  dbSNP: rs766737406
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311158 SCV000320315 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-04-09 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000555355 SCV000659446 likely benign Adams-Oliver syndrome 5 2024-01-22 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660165 SCV000782159 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001660389 SCV001874776 likely benign not provided 2021-02-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000555355 SCV002554396 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270181 SCV002554397 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542955 SCV004768009 likely benign NOTCH1-related disorder 2019-07-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics RCV001660389 SCV005228680 likely benign not provided criteria provided, single submitter not provided

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