ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1100-8C>T

gnomAD frequency: 0.00030  dbSNP: rs545088400
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724764 SCV000232272 uncertain significance not provided 2015-04-28 criteria provided, single submitter clinical testing
GeneDx RCV000724764 SCV000534636 likely benign not provided 2021-09-20 criteria provided, single submitter clinical testing
Invitae RCV001084989 SCV000559878 benign Adams-Oliver syndrome 5 2024-01-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724764 SCV004162058 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing NOTCH1: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV004537497 SCV004718525 likely benign NOTCH1-related disorder 2024-02-04 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).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003993863 SCV004813135 benign not specified 2024-02-04 criteria provided, single submitter clinical testing

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