Submissions for variant NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu)

gnomAD frequency: 0.00003  dbSNP: rs576030298

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001035413	SCV001198739	benign	Adams-Oliver syndrome 5	2023-11-13	criteria provided, single submitter	clinical testing
GeneDx	RCV001530048	SCV001811456	uncertain significance	not provided	2021-06-17	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 834677; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 27535533, 26820064)
Genome-Nilou Lab	RCV001035413	SCV002553914	uncertain significance	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002271166	SCV002553915	uncertain significance	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530048	SCV001744584	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001530048	SCV001806995	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001530048	SCV001928320	uncertain significance	not provided		no assertion criteria provided	clinical testing