ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) (rs142775522)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000243484 SCV000309438 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363285 SCV000349198 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402240 SCV000349199 likely benign Spherocytosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302573 SCV000349200 likely benign Hereditary pyropoikilocytosis 2016-06-14 criteria provided, single submitter clinical testing
Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris RCV000655920 SCV000777869 likely pathogenic Congenital hemolytic anemia 2018-02-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756705 SCV000884595 uncertain significance not provided 2018-05-18 criteria provided, single submitter clinical testing

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