ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.1970-3C>A (rs201879417)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415855 SCV000493224 uncertain significance not provided 2016-08-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000415855 SCV000111749 uncertain significance not provided 2018-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000415855 SCV000196783 uncertain significance not provided 2018-04-26 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL6A2 gene. The c.1970-3 C>A variant has been reported previously in two patients with Bethlem myopathy (Lampe et al., 2005; Tagliavini et al., 2014); however, functional characterization of the variant was not performed. The c.1970-3 C>A variant is observed in 227/125014 (0.18%) alleles from individuals of European background (Lek et al., 2016). Multiple in-silico algorithms predict that c.1970-3 C>A may damage the natural splice acceptor site of intron 25 and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
GenomeConnect, ClinGen RCV000709829 SCV000840158 not provided Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Illumina Clinical Services Laboratory,Illumina RCV000259240 SCV000436731 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300588 SCV000436732 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000548605 SCV000657127 likely benign Bethlem myopathy 1 2017-12-07 criteria provided, single submitter clinical testing

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