NM_181486.4(TBX5):c.510+5G>A AND Holt-Oram syndrome
- 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:
- RCV000763794.3
Allele description [Variation Report for NM_181486.4(TBX5):c.510+5G>A]
NM_181486.4(TBX5):c.510+5G>A
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: Feb 20, 2024