ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3859C>T (p.Arg1287Cys)

gnomAD frequency: 0.00002  dbSNP: rs751275854
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001209812 SCV001381262 likely benign Adams-Oliver syndrome 5 2025-01-14 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004792800 SCV005410915 uncertain significance not provided 2024-07-18 criteria provided, single submitter clinical testing
GeneDx RCV004792800 SCV006075607 uncertain significance not provided 2024-11-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29416628, 31184605)

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