ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.140+14C>T

gnomAD frequency: 0.00001  dbSNP: rs749885017
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002635697 SCV002978671 likely benign Adams-Oliver syndrome 5 2024-09-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004765545 SCV005381478 likely benign not specified 2024-08-03 criteria provided, single submitter clinical testing

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