ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4263C>T (p.Asn1421=)

gnomAD frequency: 0.00001  dbSNP: rs547687521
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000655299 SCV000777229 likely benign Adams-Oliver syndrome 5 2022-07-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798953 SCV002043522 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-06-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000655299 SCV002554422 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270951 SCV002554423 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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