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
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV000502956	SCV004801141	uncertain significance	Distal arthrogryposis type 5D	2024-03-14	criteria provided, single submitter	research
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV000171336	SCV000221533	likely pathogenic	not provided		flagged submission	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