ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.6120+11del

dbSNP: rs750152009
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000300015 SCV000349237 uncertain significance Spherocytosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000338625 SCV000349238 uncertain significance Pyropoikilocytosis, hereditary 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000395661 SCV000349239 uncertain significance Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765704 SCV004688141 benign not provided 2023-08-24 criteria provided, single submitter clinical testing

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