Submissions for variant NM_006579.3(EBP):c.511C>T (p.Arg171Cys)

gnomAD frequency: 0.00064  dbSNP: rs141925556

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145943	SCV000193082	likely pathogenic	Chondrodysplasia punctata 2 X-linked dominant	2013-02-08	criteria provided, single submitter	clinical testing
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	RCV000171436	SCV000221634	likely pathogenic	not provided		criteria provided, single submitter	research
GeneDx	RCV000439113	SCV000517447	likely benign	not specified	2015-06-26	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000171436	SCV000885349	benign	not provided	2018-06-17	criteria provided, single submitter	clinical testing
Invitae	RCV000171436	SCV001024322	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000145943	SCV001141852	uncertain significance	Chondrodysplasia punctata 2 X-linked dominant	2019-05-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905265	SCV004724850	likely benign	EBP-related condition	2021-04-01	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000171436	SCV001800541	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000171436	SCV001965513	likely benign	not provided		no assertion criteria provided	clinical testing