ClinVar Miner

Submissions for variant NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys) (rs147232392)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Reutter Lab, Institute of Human Genetics, University Hospital Bonn RCV000201846 SCV000222773 pathogenic VACTERL association with hydrocephaly, X-linked 2015-01-01 criteria provided, single submitter research
Invitae RCV000198780 SCV000252781 benign Heterotaxy, visceral, 1, X-linked 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000248648 SCV000309582 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360572 SCV000481805 likely benign Congenital heart defects 1, nonsyndromic, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000198780 SCV000481806 likely benign Heterotaxy, visceral, 1, X-linked 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000201846 SCV000481807 likely benign VACTERL association with hydrocephaly, X-linked 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, Partners HealthCare 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

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