NM_013352.4(DSE):c.2651G>A (p.Arg884Gln) AND Ehlers-Danlos syndrome, musculocontractural type 2
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 7, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001078769.6
Allele description [Variation Report for NM_013352.4(DSE):c.2651G>A (p.Arg884Gln)]
NM_013352.4(DSE):c.2651G>A (p.Arg884Gln)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024