NM_001378454.1(ALMS1):c.8122A>C (p.Met2708Leu) AND Alstrom syndrome
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- Jan 3, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000457298.7
Allele description [Variation Report for NM_001378454.1(ALMS1):c.8122A>C (p.Met2708Leu)]
NM_001378454.1(ALMS1):c.8122A>C (p.Met2708Leu)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024