ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.*714C>T

gnomAD frequency: 0.00007  dbSNP: rs567392981
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000320464 SCV000404026 uncertain significance Osteogenesis Imperfecta, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000377461 SCV000404027 uncertain significance Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000280657 SCV000404028 uncertain significance Infantile cortical hyperostosis 2016-06-14 criteria provided, single submitter clinical testing

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