NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln) AND Joubert syndrome 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001275257.1
Allele description [Variation Report for NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln)]
NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024