ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.1126G>T (p.Asp376Tyr)

dbSNP: rs1555791556
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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 RCV000505823 SCV000600014 likely pathogenic Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 2017-08-03 criteria provided, single submitter clinical testing

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