ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4543C>T (p.Leu1515Phe)

gnomAD frequency: 0.00002  dbSNP: rs765839822
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001957598 SCV002204835 benign Adams-Oliver syndrome 5 2023-01-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331237 SCV004038991 uncertain significance not specified 2023-08-10 criteria provided, single submitter clinical testing

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