ClinVar Miner

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

dbSNP: rs857716
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Total submissions: 13
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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

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