NM_005902.4(SMAD3):c.934G>A (p.Ala312Thr) AND Aneurysm-osteoarthritis syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- May 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002485303.3
Allele description [Variation Report for NM_005902.4(SMAD3):c.934G>A (p.Ala312Thr)]
NM_005902.4(SMAD3):c.934G>A (p.Ala312Thr)
Condition(s)
- Name:
- Aneurysm-osteoarthritis syndrome
- Synonyms:
- ANEURYSMS-OSTEOARTHRITIS SYNDROME; LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS; Loeys-Dietz syndrome 3; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013426; MedGen: C3151087; Orphanet: 284984; OMIM: 613795
Assertion and evidence details
Last Updated: Sep 29, 2024