ClinVar Miner

Submissions for variant NM_001851.5(COL9A1):c.876+2dup (rs672601329)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479843 SCV000564906 uncertain significance not specified 2017-10-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL9A1 gene. The c.876+2dupT variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The c.876+2duptT variant is predicted to destroy the canonical splice donor site in intron 8 with the adjacent exon remaining inframe. This variant may result in abnormal gene splicing; however, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined.
OMIM RCV000018734 SCV000039017 pathogenic Multiple epiphyseal dysplasia 6 2001-11-01 no assertion criteria provided literature only

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