ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3770C>T (p.Pro1257Leu)

gnomAD frequency: 0.00002  dbSNP: rs200245794
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001370591 SCV001567112 benign Adams-Oliver syndrome 5 2024-12-12 criteria provided, single submitter clinical testing
GeneDx RCV004720878 SCV005327959 uncertain significance not provided 2024-03-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign in association with a cardio-related phenotype to our knowledge; Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: Song2021[Abstract])

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