NM_000337.6(SGCD):c.*2089T>G AND Qualitative or quantitative defects of delta-sarcoglycan
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001153821.4
Allele description [Variation Report for NM_000337.6(SGCD):c.*2089T>G]
NM_000337.6(SGCD):c.*2089T>G
Condition(s)
- Name:
- Qualitative or quantitative defects of delta-sarcoglycan
- Synonyms:
- Delta-sarcoglycanopathy
- Identifiers:
- MONDO: MONDO:0016144; MedGen: C5680806
Assertion and evidence details
Last Updated: Nov 4, 2023