ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.298+7C>A (rs41317345)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710768 SCV000841071 benign not provided 2018-02-27 criteria provided, single submitter clinical testing
GeneDx RCV000607714 SCV000729617 benign not specified 2017-03-08 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.
Illumina Clinical Services Laboratory,Illumina RCV000328886 SCV000404209 likely benign Osteogenesis Imperfecta, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376577 SCV000404210 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284220 SCV000404211 likely benign Infantile cortical hyperostosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000544976 SCV000627218 benign Osteogenesis imperfecta type I 2018-01-02 criteria provided, single submitter clinical testing

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