ClinVar Miner

Submissions for variant NM_021939.3(FKBP10):c.831dup (p.Gly278fs) (rs137853883)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514347 SCV000610649 pathogenic not provided 2017-03-31 criteria provided, single submitter clinical testing
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735367 SCV000854525 pathogenic Short stature; Recurrent fractures; Kyphosis criteria provided, single submitter clinical testing
Mendelics RCV000505676 SCV001140440 pathogenic Osteogenesis imperfecta, type XI 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000003711 SCV000023874 pathogenic Osteogenesis imperfecta type 12 2011-06-01 no assertion criteria provided literature only
OMIM RCV000034358 SCV000058340 pathogenic Bruck syndrome 1 2011-06-01 no assertion criteria provided literature only
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000505676 SCV000599812 pathogenic Osteogenesis imperfecta, type XI 2017-04-20 no assertion criteria provided clinical testing

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