ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1887C>T (p.Gly629=)

gnomAD frequency: 0.00006  dbSNP: rs375695940
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603235 SCV000732112 likely benign not specified 2017-12-22 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.
Invitae RCV002066833 SCV002466924 likely benign Osteogenesis imperfecta type I 2023-11-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279442 SCV002565139 uncertain significance Osteogenesis imperfecta 2022-03-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413768 SCV002721209 likely benign Cardiovascular phenotype 2022-05-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002498987 SCV002806680 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 2021-11-04 criteria provided, single submitter clinical testing

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