ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.743-14C>T

gnomAD frequency: 0.00001  dbSNP: rs536768165
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001555446 SCV001776867 likely benign not provided 2020-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072075 SCV002348973 benign Adams-Oliver syndrome 5 2023-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002072075 SCV002555115 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271260 SCV002555116 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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