ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3171+9G>A

gnomAD frequency: 0.00008  dbSNP: rs377541723
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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 RCV000205132 SCV000262162 likely benign Adams-Oliver syndrome 5 2024-12-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323455 SCV004029532 benign not specified 2023-07-30 criteria provided, single submitter clinical testing

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