NM_019892.6(INPP5E):c.1384G>A (p.Ala462Thr) AND Joubert syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000388805.5
Allele description [Variation Report for NM_019892.6(INPP5E):c.1384G>A (p.Ala462Thr)]
NM_019892.6(INPP5E):c.1384G>A (p.Ala462Thr)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024