ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2081_2085delinsA (p.Gly694fs)

dbSNP: rs886044584
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000268205 SCV000345580 pathogenic not provided 2016-08-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000268205 SCV002023275 likely pathogenic not provided 2021-02-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000268205 SCV002563889 pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV003224871 SCV003921027 pathogenic Otospondylomegaepiphyseal dysplasia, autosomal recessive 2023-02-14 criteria provided, single submitter clinical testing This variant was identified as homozygous._x000D_ Criteria applied: PVS1, PM2_SUP, PM3_SUP

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