ClinVar Miner

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

dbSNP: rs3039789
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000292434 SCV000349523 uncertain significance Spherocytosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000352036 SCV000349524 uncertain significance Pyropoikilocytosis, hereditary 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000393570 SCV000349525 uncertain significance Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001711868 SCV001941968 benign not provided 2021-06-19 criteria provided, single submitter clinical testing

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