NM_001173990.3(TMEM216):c.137-7T>C AND Joubert syndrome 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 14, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001279270.1
Allele description [Variation Report for NM_001173990.3(TMEM216):c.137-7T>C]
NM_001173990.3(TMEM216):c.137-7T>C
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022