ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5192C>T (p.Pro1731Leu)

gnomAD frequency: 0.00014  dbSNP: rs761345476
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001581326 SCV001812049 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002573270 SCV003503954 benign Adams-Oliver syndrome 5 2023-12-11 criteria provided, single submitter clinical testing

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