Submissions for variant NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA

dbSNP: rs59957960

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147182	SCV000194548	benign	not specified	2014-04-10	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000400999	SCV000437063	benign	Microcephalic osteodysplastic primordial dwarfism	2016-06-14	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000606692	SCV000745100	benign	Microcephalic osteodysplastic primordial dwarfism type II	2017-05-31	criteria provided, single submitter	clinical testing
Invitae	RCV000948109	SCV001094304	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000948109	SCV001754149	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000606692	SCV000734111	benign	Microcephalic osteodysplastic primordial dwarfism type II		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000948109	SCV001800267	likely benign	not provided		no assertion criteria provided	clinical testing