ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.4249-12G>A (rs2249492)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000179080 SCV000612907 benign not specified 2017-07-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179080 SCV000231273 benign not specified 2016-04-04 criteria provided, single submitter clinical testing
GeneDx RCV000179080 SCV000515945 benign not specified 2016-03-03 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 RCV000349228 SCV000404095 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407494 SCV000404096 likely benign Osteogenesis Imperfecta, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313316 SCV000404097 likely benign Infantile cortical hyperostosis 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000179080 SCV000302002 benign not specified criteria provided, single submitter clinical testing

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