Submissions for variant NM_003126.4(SPTA1):c.6549-12G>A

dbSNP: rs857716

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000254335	SCV000309437	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000375561	SCV000349207	benign	Elliptocytosis 2	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.
Illumina Laboratory Services, Illumina	RCV000292855	SCV000349208	benign	Pyropoikilocytosis, hereditary	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.
Illumina Laboratory Services, Illumina	RCV000331337	SCV000349209	benign	Hereditary spherocytosis type 3	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001640528	SCV001158745	likely benign	not provided	2021-11-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001640528	SCV001861143	benign	not provided	2019-05-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32581362)
Genome-Nilou Lab	RCV000292855	SCV002057666	benign	Pyropoikilocytosis, hereditary	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000331337	SCV002057667	benign	Hereditary spherocytosis type 3	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000375561	SCV002057668	benign	Elliptocytosis 2	2021-07-15	criteria provided, single submitter	clinical testing
Invitae	RCV001640528	SCV002481539	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge	RCV001003792	SCV001162236	likely pathogenic	Hemolytic anemia		no assertion criteria provided	research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000254335	SCV001741784	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000254335	SCV001932457	benign	not specified		no assertion criteria provided	clinical testing