ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.528C>T (p.Ser176=) (rs748856187)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000311677 SCV000404203 uncertain significance Osteogenesis Imperfecta, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368586 SCV000404204 uncertain significance Infantile cortical hyperostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276290 SCV000404205 uncertain significance Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000542211 SCV000627269 likely benign Osteogenesis imperfecta type I 2017-05-01 criteria provided, single submitter clinical testing

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