NM_001044385.3(TMEM237):c.317C>G (p.Ser106Cys) AND Joubert syndrome 14
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 13, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001223614.6
Allele description [Variation Report for NM_001044385.3(TMEM237):c.317C>G (p.Ser106Cys)]
NM_001044385.3(TMEM237):c.317C>G (p.Ser106Cys)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024