ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg) (rs534770840)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179916 SCV000232236 uncertain significance not provided 2014-07-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329540 SCV000433008 uncertain significance Congenital dyserythropoietic anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000179916 SCV001101783 benign not provided 2018-07-04 criteria provided, single submitter clinical testing

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