ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2740+15G>A

gnomAD frequency: 0.00003  dbSNP: rs1399805738
Minimum review status: Collection method:
Minimum conflict level:
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 RCV003081666 SCV003466791 likely benign Adams-Oliver syndrome 5 2024-07-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005239640 SCV005883592 likely benign not specified 2024-12-13 criteria provided, single submitter clinical testing

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