ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.1489+2T>A

dbSNP: rs1131692038
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital RCV000494706 SCV000583447 uncertain significance Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 2017-06-12 criteria provided, single submitter clinical testing

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