NM_001044385.3(TMEM237):c.557G>T (p.Arg186Ile) AND Joubert syndrome 14
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002927120.3
Allele description [Variation Report for NM_001044385.3(TMEM237):c.557G>T (p.Arg186Ile)]
NM_001044385.3(TMEM237):c.557G>T (p.Arg186Ile)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024