ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu)

gnomAD frequency: 0.00001  dbSNP: rs1037236860
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523401 SCV000620615 uncertain significance not provided 2024-11-19 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000700981 SCV000829761 benign Adams-Oliver syndrome 5 2024-10-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000700981 SCV002553966 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270632 SCV002553967 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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