Submissions for variant NM_006031.6(PCNT):c.720+17T>C

gnomAD frequency: 0.67221  dbSNP: rs9982233

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081358	SCV000113289	benign	not specified	2013-07-03	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000603864	SCV000745088	benign	Microcephalic osteodysplastic primordial dwarfism type II	2017-05-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001664380	SCV001873105	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000603864	SCV002029450	benign	Microcephalic osteodysplastic primordial dwarfism type II	2021-09-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001664380	SCV002485288	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001664380	SCV005276677	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000081358	SCV000194560	likely benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000603864	SCV000734099	benign	Microcephalic osteodysplastic primordial dwarfism type II		no assertion criteria provided	clinical testing