ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.104-441G>T

gnomAD frequency: 0.13897  dbSNP: rs1800012
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001484 SCV001158758 benign not specified 2018-07-09 criteria provided, single submitter clinical testing
Invitae RCV001517237 SCV001725703 benign Osteogenesis imperfecta type I 2024-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497319 SCV002813137 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 2022-05-06 criteria provided, single submitter clinical testing

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