NM_016038.4(SBDS):c.258+2T>C AND multiple conditions
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Aug 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000763594.9
Allele description [Variation Report for NM_016038.4(SBDS):c.258+2T>C]
NM_016038.4(SBDS):c.258+2T>C
Condition(s)
Assertion and evidence details
Last Updated: Jun 2, 2024