ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.6789-19_6789-18dup

dbSNP: rs5778083
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000317616 SCV000349189 likely benign Pyropoikilocytosis, hereditary 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000372248 SCV000349190 likely benign Spherocytosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000282449 SCV000349191 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV002059336 SCV002414055 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000506679 SCV001742132 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000506679 SCV001928652 benign not specified no assertion criteria provided clinical testing

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