ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.335-8del

dbSNP: rs2149478420
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001512177 SCV001719541 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2020-07-19 criteria provided, single submitter clinical testing
GeneDx RCV001762706 SCV002009030 uncertain significance not provided 2020-11-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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