NM_004260.4(RECQL4):c.1396C>G (p.Pro466Ala) AND Rothmund-Thomson syndrome type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 21, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001292949.1
Allele description [Variation Report for NM_004260.4(RECQL4):c.1396C>G (p.Pro466Ala)]
NM_004260.4(RECQL4):c.1396C>G (p.Pro466Ala)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024