Submissions for variant NM_018451.5(CENPJ):c.3704-14_3704-12del

dbSNP: rs34991318

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145579	SCV000192674	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000145579	SCV000202396	benign	not specified	2014-03-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000370571	SCV000383459	benign	Primary Microcephaly, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000273696	SCV000383460	benign	Seckel syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001650993	SCV000714540	benign	not provided	2018-06-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001578979	SCV001806357	benign	Seckel syndrome 4	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001578980	SCV001806358	benign	Microcephaly 6, primary, autosomal recessive	2021-07-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001650993	SCV002407218	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000145579	SCV001742223	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000145579	SCV001971683	benign	not specified		no assertion criteria provided	clinical testing