ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4635C>T (p.Cys1545=)

gnomAD frequency: 0.00004  dbSNP: rs775752102
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473857 SCV000559942 likely benign Adams-Oliver syndrome 5 2024-01-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580130 SCV001809784 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001580130 SCV001956264 likely benign not provided no assertion criteria provided clinical testing

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