NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr) AND Alstrom syndrome
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- Nov 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000548287.8
Allele description [Variation Report for NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr)]
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024