NM_016038.4(SBDS):c.305_308del (p.Thr102fs) AND Shwachman-Diamond syndrome 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001783711.4
Allele description [Variation Report for NM_016038.4(SBDS):c.305_308del (p.Thr102fs)]
NM_016038.4(SBDS):c.305_308del (p.Thr102fs)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024