ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.1821C>T (p.Val607=) (rs41316667)

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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 RCV000710761 SCV000841064 benign not provided 2018-03-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000336222 SCV000339748 benign not specified 2016-02-11 criteria provided, single submitter clinical testing
GeneDx RCV000336222 SCV000532817 benign not specified 2016-10-24 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 RCV000379980 SCV000404167 likely benign Osteogenesis Imperfecta, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259291 SCV000404168 likely benign Infantile cortical hyperostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316916 SCV000404169 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000531187 SCV000627188 benign Osteogenesis imperfecta type I 2017-12-06 criteria provided, single submitter clinical testing

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