ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.2594G>A (p.Ser865Asn) (rs138083522)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255679 SCV000321528 likely benign not specified 2017-03-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000534645 SCV000637261 likely benign Imerslund-Gräsbeck syndrome 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000255679 SCV000859044 likely benign not specified 2018-01-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001105418 SCV001262382 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). 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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