ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2087_2090del (p.Glu696fs)

dbSNP: rs1583335192
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995511 SCV001149714 pathogenic Fibrochondrogenesis 2 2019-06-03 criteria provided, single submitter clinical testing
Institute of Human Genetics, Cologne University RCV001257573 SCV001433868 pathogenic Otospondylomegaepiphyseal dysplasia, autosomal recessive 2020-09-28 no assertion criteria provided clinical testing PVS1, PM2, PM3_supporting as ist was in homozygous condition in the patient
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV003326527 SCV003927880 likely pathogenic Autosomal dominant nonsyndromic hearing loss 13 2023-04-01 no assertion criteria provided clinical testing

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