NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg) AND Brittle cornea syndrome 1
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000320795.7
Allele description [Variation Report for NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg)]
NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg)
Condition(s)
- Name:
- Brittle cornea syndrome 1 (BCS1)
- Synonyms:
- EDS6B; EDS VIB (formerly); Ehlers-Danlos syndrome type 6B (formerly); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0024543; MedGen: C0268344; Orphanet: 90354; OMIM: 229200
Assertion and evidence details
Last Updated: Mar 16, 2024