Submissions for variant NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup)

dbSNP: rs748325646

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000824720	SCV000336271	uncertain significance	not provided	2015-11-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084923	SCV000563113	likely benign	Heterotaxy, visceral, 1, X-linked	2023-11-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003891916	SCV000309580	likely benign	ZIC3-related disorder	2019-11-21	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000251685	SCV001744233	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000824720	SCV001932006	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000824720	SCV001959443	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000824720	SCV001969529	likely benign	not provided		no assertion criteria provided	clinical testing