ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.588+16G>A

gnomAD frequency: 0.00032  dbSNP: rs191715075
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443860 SCV000518555 benign not specified 2017-01-06 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.
Athena Diagnostics RCV000991598 SCV001143191 benign not provided 2019-07-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000991598 SCV001477706 benign not provided 2023-04-04 criteria provided, single submitter clinical testing
Invitae RCV002062327 SCV002327790 benign Osteogenesis imperfecta type I 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502504 SCV002807509 likely benign Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Osteoporosis; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 2021-08-30 criteria provided, single submitter clinical testing

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