ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.1315G>T (p.Asp439Tyr)

dbSNP: rs1601054002
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990189 SCV001141039 likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 2019-05-28 criteria provided, single submitter clinical testing
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV000990189 SCV002512065 pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 2022-04-01 criteria provided, single submitter clinical testing

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