ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.-126dup

dbSNP: rs34783066
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000343646 SCV000349673 likely benign Pyropoikilocytosis, hereditary 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000406917 SCV000349674 likely benign Spherocytosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304312 SCV000349675 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001660562 SCV001872527 benign not provided 2021-06-19 criteria provided, single submitter clinical testing

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