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

gnomAD frequency: 0.01236  dbSNP: rs61735304

Total submissions: 9

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.
Labcorp Genetics (formerly Invitae), Labcorp	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
Breakthrough Genomics, Breakthrough Genomics	RCV001512895	SCV005214929	likely benign	not provided		criteria provided, single submitter	not provided