ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2354-14C>A

gnomAD frequency: 0.00003  dbSNP: rs376797282
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680593 SCV000808019 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003586213 SCV004276772 likely benign Adams-Oliver syndrome 5 2023-11-27 criteria provided, single submitter clinical testing

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