ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.1615-4C>A (rs41316657)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000292542 SCV000603106 likely benign not specified 2016-10-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000444133 SCV000841060 benign not provided 2017-09-08 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000444133 SCV000511087 benign not provided 2017-01-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000292542 SCV000335805 benign not specified 2015-10-08 criteria provided, single submitter clinical testing
GeneDx RCV000292542 SCV000730524 benign not specified 2017-02-27 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 RCV000386610 SCV000404173 likely benign Infantile cortical hyperostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294729 SCV000404174 likely benign Osteogenesis Imperfecta, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351973 SCV000404175 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000546910 SCV000627175 benign Osteogenesis imperfecta type I 2017-12-27 criteria provided, single submitter clinical testing

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