ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.380+12T>C (rs3092881)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078641 SCV000110497 benign not specified 2013-09-06 criteria provided, single submitter clinical testing
GeneDx RCV000078641 SCV000518993 likely benign not specified 2016-12-27 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.
Illumina Clinical Services Laboratory,Illumina RCV000402398 SCV000384536 likely benign Retinoblastoma 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588906 SCV000696569 benign not provided 2016-05-24 criteria provided, single submitter clinical testing Variant summary: The RB1 c.380+12T>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 383/118794 control chromosomes (5 homozygotes) at a frequency of 0.0032241, which is approximately 77 times the estimated maximal expected allele frequency of a pathogenic RB1 variant (0.0000417), suggesting this variant is likely a benign polymorphism. In addition, one clinical diagnostic laboratory classified this variant as benign. Taken together, this variant is classified as benign.
PreventionGenetics RCV000078641 SCV000303586 benign not specified criteria provided, single submitter clinical testing

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