ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.2061G>T (p.Leu687=) (rs7262532)

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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 RCV000081405 SCV000113336 benign not specified 2013-02-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344362 SCV000433023 likely benign Congenital dyserythropoietic anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000638852 SCV000760406 benign Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2017-12-14 criteria provided, single submitter clinical testing

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