ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.4702T>C (p.Cys1568Arg)

gnomAD frequency: 0.60775  dbSNP: rs863931
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000244890 SCV000309424 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000383306 SCV000349333 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 RCV000288918 SCV000349334 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.
Illumina Laboratory Services, Illumina RCV000325129 SCV000349335 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001668488 SCV000605271 benign not provided 2023-11-30 criteria provided, single submitter clinical testing
GeneDx RCV001668488 SCV001889478 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000325129 SCV002057686 benign Pyropoikilocytosis, hereditary 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000288918 SCV002057687 benign Hereditary spherocytosis type 3 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000383306 SCV002057688 benign Elliptocytosis 2 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV001668488 SCV002365730 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000244890 SCV001744316 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000244890 SCV001926780 benign not specified no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.