ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.1768-8C>T (rs193922142)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444930 SCV000533892 likely benign not specified 2017-12-08 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.
Integrated Genetics/Laboratory Corporation of America RCV000029559 SCV000052211 uncertain Osteogenesis imperfecta 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.

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