Submissions for variant NM_147127.5(EVC2):c.122C>A (p.Pro41His)

gnomAD frequency: 0.00286  dbSNP: rs544397395

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000252966	SCV000224700	likely benign	not specified	2016-07-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000252966	SCV000316117	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000267094	SCV000450113	uncertain significance	Ellis-van Creveld syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000387924	SCV000484084	likely benign	Curry-Hall syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000267094	SCV000484085	likely benign	Ellis-van Creveld syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001573247	SCV000729108	likely benign	not provided	2020-10-30	criteria provided, single submitter	clinical testing
Invitae	RCV000637047	SCV000758495	benign	Ellis-van Creveld syndrome; Curry-Hall syndrome	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573247	SCV001157352	likely benign	not provided	2023-10-03	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573247	SCV001798816	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573247	SCV001931013	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573247	SCV001963726	likely benign	not provided		no assertion criteria provided	clinical testing