NM_003238.6(TGFB2):c.17T>C (p.Leu6Pro) AND Holt-Oram syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 20, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000634159.1
Allele description
NM_003238.6(TGFB2):c.17T>C (p.Leu6Pro)
Condition(s)
- Name:
- Holt-Oram syndrome (HOS)
- Synonyms:
- Ventriculo-radial syndrome; Atrio digital syndrome; Cardiac-limb syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007732; MedGen: C0265264; Orphanet: 392; OMIM: 142900
Assertion and evidence details
Last Updated: Jan 1, 2022