Submissions for variant NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys)

gnomAD frequency: 0.00206  dbSNP: rs147232392

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000198780	SCV000252781	benign	Heterotaxy, visceral, 1, X-linked	2024-01-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000248648	SCV000309582	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000360572	SCV000481805	likely benign	Congenital heart defects 1, nonsyndromic, 1	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000198780	SCV000481806	likely benign	Heterotaxy, visceral, 1, X-linked	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000201846	SCV000481807	likely benign	VACTERL association, X-linked, with or without hydrocephalus	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000248648	SCV000540697	likely benign	not specified	2016-06-02	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 1% frequency and 26 hemizygotes in the European population in ExAC
Institute of Human Genetics, University of Leipzig Medical Center	RCV000198780	SCV001440737	benign	Heterotaxy, visceral, 1, X-linked	2019-01-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001563202	SCV001786102	likely benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26294094, 19933292, 24123890, 23427188)
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	RCV000198780	SCV002767260	likely benign	Heterotaxy, visceral, 1, X-linked	2022-02-02	criteria provided, single submitter	clinical testing	Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as likely benign. Following criteria are met: 0308 - Population frequency for this variant is out of keeping with known incidence of X-linked recessive Congenital heart defects, nonsyndromic, 1 (MIM#306955). (SB) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
CeGaT Center for Human Genetics Tuebingen	RCV001563202	SCV004165731	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	ZIC3: BS1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn	RCV000201846	SCV000222773	pathogenic	VACTERL association, X-linked, with or without hydrocephalus	2015-01-01	flagged submission	research
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001563202	SCV001799290	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001563202	SCV001928927	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001563202	SCV001965152	likely benign	not provided		no assertion criteria provided	clinical testing