Submissions for variant NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser)

gnomAD frequency: 0.00627  dbSNP: rs62638745

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000018068	SCV000410630	benign	Primary familial polycythemia due to EPO receptor mutation	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.
Invitae	RCV000893045	SCV001036958	benign	not provided	2024-01-08	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003321483	SCV004026969	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000893045	SCV004137864	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	EPOR: BP4, BS2
OMIM	RCV000018068	SCV000038347	affects	Primary familial polycythemia due to EPO receptor mutation	1996-02-15	no assertion criteria provided	literature only
GeneReviews	RCV000018068	SCV000328590	not provided	Primary familial polycythemia due to EPO receptor mutation		no assertion provided	literature only