Submissions for variant NM_005585.5(SMAD6):c.1260C>T (p.Pro420=)

gnomAD frequency: 0.00024  dbSNP: rs371930288

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000465752	SCV000556171	likely benign	Aortic valve disease 2	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002436479	SCV002676624	likely benign	Inborn genetic diseases	2019-07-26	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724018	SCV001956993	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001724018	SCV001973882	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001724018	SCV001978360	likely benign	not provided		no assertion criteria provided	clinical testing