NM_000405.5(GM2A):c.517G>A (p.Val173Ile) AND Tay-Sachs disease, variant AB
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Feb 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001157496.5
Allele description [Variation Report for NM_000405.5(GM2A):c.517G>A (p.Val173Ile)]
NM_000405.5(GM2A):c.517G>A (p.Val173Ile)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023