ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.813-7A>T

gnomAD frequency: 0.95672  dbSNP: rs325995
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244912 SCV000309441 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000330862 SCV000349601 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 RCV000387696 SCV000349602 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 RCV000295806 SCV000349603 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001651174 SCV000605263 benign not provided 2023-11-30 criteria provided, single submitter clinical testing
GeneDx RCV001651174 SCV001865448 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000387696 SCV002056500 benign Pyropoikilocytosis, hereditary 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000330862 SCV002056501 benign Hereditary spherocytosis type 3 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000295806 SCV002056502 benign Elliptocytosis 2 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV001651174 SCV002404108 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000244912 SCV001741737 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000244912 SCV001926294 benign not specified no assertion criteria provided clinical testing

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