ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.1484G>A (p.Arg495His) (rs141588462)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250114 SCV000311463 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000877868 SCV001020672 benign Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001138957 SCV001299052 benign Congenital dyserythropoietic anemia, type II 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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