ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.52G>A (p.Ala18Thr)

gnomAD frequency: 0.00145  dbSNP: rs754613772
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001648232 SCV001860263 benign not provided 2019-01-07 criteria provided, single submitter clinical testing
Invitae RCV002072991 SCV002420472 benign Adams-Oliver syndrome 5 2023-08-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002072991 SCV002555182 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271280 SCV002555183 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology RCV002284222 SCV002573670 pathogenic Myeloproliferative neoplasm, unclassifiable 2022-08-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542054 SCV004757284 likely benign NOTCH1-related disorder 2020-12-22 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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