ClinVar Miner

Submissions for variant NM_002381.5(MATN3):c.34G>A (p.Gly12Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005030755 SCV005648030 uncertain significance Multiple epiphyseal dysplasia type 5; Spondyloepimetaphyseal dysplasia, matrilin-3 type; Osteoarthritis susceptibility 2 2024-03-15 criteria provided, single submitter clinical testing

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