ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.1951C>G (p.Arg651Gly) (rs182512508)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490503 SCV000267277 uncertain significance Megaloblastic anemia due to inborn errors of metabolism 2016-03-18 criteria provided, single submitter reference population
Illumina Clinical Services Laboratory,Illumina RCV001105434 SCV001262398 likely benign Imerslund-Gräsbeck syndrome 1 2017-04-27 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
SingHealth Duke-NUS Institute of Precision Medicine RCV000490503 SCV000853156 uncertain significance Megaloblastic anemia due to inborn errors of metabolism 2017-06-07 no assertion criteria provided curation

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