NM_000988.5(RPL27):c.40C>G (p.Leu14Val) AND Diamond-Blackfan anemia 16
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003991755.2
Allele description [Variation Report for NM_000988.5(RPL27):c.40C>G (p.Leu14Val)]
NM_000988.5(RPL27):c.40C>G (p.Leu14Val)
Condition(s)
Assertion and evidence details
Last Updated: Aug 4, 2024