ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.5911-17_5911-8del (rs554241455)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000352392 SCV000349258 uncertain significance Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397704 SCV000349259 uncertain significance Spherocytosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308212 SCV000349260 uncertain significance Hereditary pyropoikilocytosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000962929 SCV001110045 likely benign not provided 2018-07-31 criteria provided, single submitter clinical testing

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