ClinVar Miner

Submissions for variant NM_012193.4(FZD4):c.97C>T (p.Pro33Ser)

gnomAD frequency: 0.01236  dbSNP: rs61735304
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173423 SCV000224538 benign not specified 2014-10-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000387944 SCV000374803 benign Exudative vitreoretinopathy 1 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000173423 SCV000539212 likely benign not specified 2016-03-29 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: Frequency in ESP (all): 150/12934=1.15%
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000387944 SCV001435244 benign Exudative vitreoretinopathy 1 criteria provided, single submitter research The heterozygous p.Pro33Ser variant in FZD4 has been identified in an individual with exudative vitreoretinopathy (PMID: 15733276), but has been identified in >4% of Latino chromosomes and 39 total homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal dominant exudative vitreoretinopathy.
Invitae RCV001512895 SCV001720392 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001512895 SCV001869185 benign not provided 2018-12-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21179236, 28982955, 24744206, 27535533, 15733276, 15223780, 22995991)
Fulgent Genetics, Fulgent Genetics RCV000387944 SCV002809588 likely benign Exudative vitreoretinopathy 1 2022-03-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001512895 SCV004131251 benign not provided 2023-01-01 criteria provided, single submitter clinical testing FZD4: BS1, BS2

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