ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val)

dbSNP: rs72658150
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279260 SCV002564779 likely pathogenic Osteogenesis imperfecta 2021-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481546 SCV002778397 pathogenic Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, cardiac valvular type; Osteoporosis; Ehlers-danlos syndrome, arthrochalasia type, 2; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 2022-02-22 criteria provided, single submitter clinical testing
Department of Medical Sciences, Uppsala University RCV000490755 SCV000574652 pathogenic Osteogenesis imperfecta type III no assertion criteria provided clinical testing

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