ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.6789-8del (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 RCV000350707 SCV000349195 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397702 SCV000349196 likely benign Hereditary pyropoikilocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306238 SCV000349197 likely benign Spherocytosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506143 SCV000605278 benign not specified 2018-08-08 criteria provided, single submitter clinical testing

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