ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1555+15C>T

gnomAD frequency: 0.00006  dbSNP: rs577175237
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002147215 SCV002411739 likely benign Adams-Oliver syndrome 5 2025-01-17 criteria provided, single submitter clinical testing

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