ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5384+11G>A

gnomAD frequency: 0.00001  dbSNP: rs1340470620
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002224166 SCV002501840 uncertain significance not provided 2021-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003093872 SCV003463316 likely benign Adams-Oliver syndrome 5 2024-08-21 criteria provided, single submitter clinical testing

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