ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5995C>T (p.Leu1999=)

gnomAD frequency: 0.00001  dbSNP: rs1208814818
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150617 SCV003837912 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003748459 SCV004471493 likely benign Adams-Oliver syndrome 5 2023-07-22 criteria provided, single submitter clinical testing

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