ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.448G>A (p.Ala150Thr)

gnomAD frequency: 0.00006  dbSNP: rs372660483
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220402 SCV001392390 benign Adams-Oliver syndrome 5 2023-12-09 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508286 SCV001714340 uncertain significance not provided 2020-07-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001220402 SCV002554010 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271196 SCV002554011 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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