ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1556-9C>T

gnomAD frequency: 0.00017  dbSNP: rs150834418
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000548117 SCV000659377 benign Adams-Oliver syndrome 5 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001697383 SCV000721952 likely benign not provided 2019-05-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000548117 SCV002555060 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270674 SCV002555061 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530590 SCV004756003 likely benign NOTCH1-related disorder 2019-03-11 no assertion criteria provided 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).

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