ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.140+17C>T

gnomAD frequency: 0.00050  dbSNP: rs377269443
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV002080248 SCV002322220 benign Adams-Oliver syndrome 5 2025-01-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699659 SCV005205318 benign not specified 2024-06-04 criteria provided, single submitter clinical testing

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