NM_153704.6(TMEM67):c.29C>T (p.Ala10Val) AND Joubert syndrome 6
- 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:
- RCV000341063.5
Allele description [Variation Report for NM_153704.6(TMEM67):c.29C>T (p.Ala10Val)]
NM_153704.6(TMEM67):c.29C>T (p.Ala10Val)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024