ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1670-10C>T

gnomAD frequency: 0.00004  dbSNP: rs751747178
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000916178 SCV001061411 likely benign Adams-Oliver syndrome 5 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV001585867 SCV001820763 likely benign not provided 2018-10-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000916178 SCV002555040 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271113 SCV002555041 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543437 SCV004784817 likely benign NOTCH1-related disorder 2021-06-15 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).

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