ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) (rs36023150)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081408 SCV000113339 benign not specified 2014-06-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269836 SCV000433007 likely benign Congenital dyserythropoietic anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000560193 SCV000637257 benign Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2017-05-11 criteria provided, single submitter clinical testing
OMIM RCV000210063 SCV000265993 uncertain significance Cowden syndrome 7 2018-07-11 no assertion criteria provided literature only

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