ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.1834-15_1834-14del

dbSNP: rs3039789
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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 RCV000279670 SCV000349526 uncertain significance Spherocytosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000334376 SCV000349527 uncertain significance Pyropoikilocytosis, hereditary 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000405215 SCV000349528 uncertain significance Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001594930 SCV001828592 benign not provided 2021-06-19 criteria provided, single submitter clinical testing

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