ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.865+10C>T

gnomAD frequency: 0.00004  dbSNP: rs760702631
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660140 SCV000782134 uncertain significance Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001469626 SCV001673706 likely benign Adams-Oliver syndrome 5 2023-12-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938013 SCV004755607 likely benign NOTCH1-related condition 2023-04-10 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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