NM_014244.5(ADAMTS2):c.3396G>A (p.Val1132=) AND Ehlers-Danlos syndrome, dermatosparaxis type
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001424798.6
Allele description [Variation Report for NM_014244.5(ADAMTS2):c.3396G>A (p.Val1132=)]
NM_014244.5(ADAMTS2):c.3396G>A (p.Val1132=)
Condition(s)
- Name:
- Ehlers-Danlos syndrome, dermatosparaxis type
- Synonyms:
- EDS VIIC; Dermatosparaxis; Ehlers-Danlos syndrome type 7C (formerly); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009161; MedGen: C2700425; Orphanet: 1901; OMIM: 225410
Assertion and evidence details
Last Updated: Feb 14, 2024