ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.6789-8del

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 RCV000350707 SCV000349195 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000397702 SCV000349196 likely benign Pyropoikilocytosis, hereditary 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306238 SCV000349197 likely benign Spherocytosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506143 SCV000605278 benign not specified 2018-08-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502160 SCV002808499 benign Elliptocytosis 2; Pyropoikilocytosis, hereditary; Hereditary spherocytosis type 3 2022-03-01 criteria provided, single submitter clinical testing
Invitae RCV002519400 SCV003236875 benign not provided 2023-12-13 criteria provided, single submitter clinical testing

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