NM_001378454.1(ALMS1):c.2279A>G (p.Gln760Arg) AND Alstrom syndrome
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- Nov 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000814971.7
Allele description [Variation Report for NM_001378454.1(ALMS1):c.2279A>G (p.Gln760Arg)]
NM_001378454.1(ALMS1):c.2279A>G (p.Gln760Arg)
Condition(s)
Assertion and evidence details
Last Updated: Jan 7, 2023