Submissions for variant NM_001430.5(EPAS1):c.1035-7C>G

dbSNP: rs7557402

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PharmGKB	RCV003227743	SCV003925527	drug response	sorafenib response - Toxicity	2022-12-02	reviewed by expert panel	curation	PharmGKB Level of Evidence 2B: Variants in Level 2B clinical annotations are not in PharmGKB’s Tier 1 VIPs. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2B clinical annotations must be supported by at least two independent publications.
Illumina Laboratory Services, Illumina	RCV000329925	SCV000430724	benign	Erythrocytosis, familial, 4	2018-01-13	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.
GeneDx	RCV001613097	SCV001837249	benign	not provided	2018-06-22	criteria provided, single submitter	clinical testing
Invitae	RCV001613097	SCV003335070	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000329925	SCV004562801	benign	Erythrocytosis, familial, 4	2023-11-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003972423	SCV004798038	benign	EPAS1-related condition	2019-04-04	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).