ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.5911-17_5911-8del

dbSNP: rs554241455
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000352392 SCV000349258 uncertain significance Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000397704 SCV000349259 uncertain significance Spherocytosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000308212 SCV000349260 uncertain significance Pyropoikilocytosis, hereditary 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000962929 SCV001110045 likely benign not provided 2024-12-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000962929 SCV001961144 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing SPTA1: BP4, BS2
Mayo Clinic Laboratories, Mayo Clinic RCV000962929 SCV002541546 uncertain significance not provided 2021-07-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000962929 SCV005876190 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing

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