ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1774C>T (p.Arg592Cys)

gnomAD frequency: 0.00005  dbSNP: rs1472690723
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001223355 SCV001395499 benign Adams-Oliver syndrome 5 2023-07-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480736 SCV002780343 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2021-11-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702090 SCV001929954 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702090 SCV001973581 uncertain significance not provided no assertion criteria provided clinical testing

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