Submissions for variant NM_006031.6(PCNT):c.7914-16C>T

gnomAD frequency: 0.67468  dbSNP: rs2839257

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000147217	SCV000229877	benign	not specified	2014-11-23	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000613595	SCV000745101	benign	Microcephalic osteodysplastic primordial dwarfism type II	2017-05-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001540816	SCV001758743	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000613595	SCV002029460	benign	Microcephalic osteodysplastic primordial dwarfism type II	2021-09-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001540816	SCV002346349	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001540816	SCV005278142	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000147217	SCV000194584	likely benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000613595	SCV000734112	benign	Microcephalic osteodysplastic primordial dwarfism type II		no assertion criteria provided	clinical testing