ClinVar Miner

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

dbSNP: rs5778083
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000320880 SCV000349186 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000380318 SCV000349187 likely benign Spherocytosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000285853 SCV000349188 likely benign Pyropoikilocytosis, hereditary 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001696204 SCV001916474 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000285853 SCV002057662 benign Pyropoikilocytosis, hereditary 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808745 SCV002057664 benign Hereditary spherocytosis type 3 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808744 SCV002057665 benign Elliptocytosis 2 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV001696204 SCV002448231 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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