ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.6789-19dup (rs5778083)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000320880 SCV000349186 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380318 SCV000349187 likely benign Spherocytosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285853 SCV000349188 likely benign Hereditary pyropoikilocytosis 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507307 SCV000605268 benign not specified 2019-01-03 criteria provided, single submitter clinical testing

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