ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7386C>T (p.Pro2462=)

gnomAD frequency: 0.00004  dbSNP: rs369470875
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697453 SCV000717468 likely benign not provided 2019-07-03 criteria provided, single submitter clinical testing
Invitae RCV002063076 SCV002365795 likely benign Adams-Oliver syndrome 5 2024-01-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002063076 SCV002553768 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270751 SCV002553770 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498910 SCV002813019 likely benign Aortic valve disease 1; Adams-Oliver syndrome 5 2022-03-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892333 SCV004713324 likely benign NOTCH1-related condition 2022-03-31 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).

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