NM_025265.4(TSEN2):c.1337A>G (p.Gln446Arg) AND Pontocerebellar hypoplasia type 2B
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 17, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000195073.1
Assertion and evidence details
Last Updated: Oct 25, 2021