Submissions for variant NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys)

gnomAD frequency: 0.00001  dbSNP: rs532757890

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	RCV000171336	SCV000221533	likely pathogenic	not provided		criteria provided, single submitter	research
Genetic Services Laboratory, University of Chicago	RCV000502956	SCV000594490	pathogenic	Distal arthrogryposis type 5D	2016-06-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000171336	SCV001831942	likely pathogenic	not provided	2020-05-13	criteria provided, single submitter	clinical testing	Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26752647, 23829171, 30131190)
Revvity Omics, Revvity	RCV000502956	SCV003831374	uncertain significance	Distal arthrogryposis type 5D	2020-04-01	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000502956	SCV004801141	uncertain significance	Distal arthrogryposis type 5D	2024-03-14	criteria provided, single submitter	research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000502956	SCV001133101	pathogenic	Distal arthrogryposis type 5D	2019-09-26	no assertion criteria provided	clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	RCV000502956	SCV001167522	likely pathogenic	Distal arthrogryposis type 5D		no assertion criteria provided	research