ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln) (rs111572459)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000421047 SCV000510953 likely benign not provided 2016-12-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000545373 SCV000637256 benign Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2017-07-10 criteria provided, single submitter clinical testing
PreventionGenetics RCV000247103 SCV000311465 likely benign not specified criteria provided, single submitter clinical testing

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