NM_016038.4(SBDS):c.541A>G (p.Asn181Asp) AND Shwachman-Diamond syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003148226.1
Allele description [Variation Report for NM_016038.4(SBDS):c.541A>G (p.Asn181Asp)]
NM_016038.4(SBDS):c.541A>G (p.Asn181Asp)
Condition(s)
Assertion and evidence details
Last Updated: Aug 5, 2023