ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.1300-8C>T (rs41317361)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000176025 SCV000603101 benign not specified 2016-03-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710757 SCV000841058 benign not provided 2018-02-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176025 SCV000227609 benign not specified 2015-02-05 criteria provided, single submitter clinical testing
GeneDx RCV000176025 SCV000516929 benign not specified 2016-10-31 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 RCV000407886 SCV000404176 likely benign Osteogenesis Imperfecta, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290584 SCV000404177 likely benign Infantile cortical hyperostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347846 SCV000404178 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000532626 SCV000627168 benign Osteogenesis imperfecta type I 2017-12-26 criteria provided, single submitter clinical testing

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