NM_002381.5(MATN3):c.659T>C (p.Val220Ala) AND Multiple epiphyseal dysplasia type 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000986594.1
Allele description [Variation Report for NM_002381.5(MATN3):c.659T>C (p.Val220Ala)]
NM_002381.5(MATN3):c.659T>C (p.Val220Ala)
Condition(s)
Assertion and evidence details
Last Updated: Jun 17, 2024