ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.709+8C>T (rs779535244)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726202 SCV000342872 uncertain significance not provided 2018-06-15 criteria provided, single submitter clinical testing
GeneDx RCV000726202 SCV000583299 uncertain significance not provided 2017-05-31 criteria provided, single submitter clinical testing The c.709+8 C>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Multiple in-silico splice prediction models predict that c.709+8 C>T creates a cryptic splice donor site which may supplant the natural donor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies the actual effect of c.709+8 C>T on splicing in this individual is unknown.
Fulgent Genetics,Fulgent Genetics RCV000765647 SCV000896976 uncertain significance Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Dystonia 27 2018-10-31 criteria provided, single submitter clinical testing

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