ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp) (rs41273533)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000049 SCV000884585 uncertain significance none provided 2020-06-25 criteria provided, single submitter clinical testing
Invitae RCV000756695 SCV001115153 likely benign not provided 2018-11-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000756695 SCV001248564 likely benign not provided 2020-07-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001098793 SCV001255181 benign Hereditary pyropoikilocytosis 2017-05-09 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001098794 SCV001255182 likely benign Spherocytosis type 3 2017-05-09 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001098795 SCV001255183 likely benign Elliptocytosis 2 2017-05-09 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Mayo Clinic Laboratories, Mayo Clinic RCV000756695 SCV001713900 uncertain significance not provided 2020-08-10 criteria provided, single submitter clinical testing

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