NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) AND Joubert syndrome 6
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 23, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000201777.9
Allele description [Variation Report for NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)]
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)
Condition(s)
Assertion and evidence details
Last Updated: Apr 20, 2024