NM_004863.4(SPTLC2):c.1448G>T (p.Gly483Val) AND Neuropathy, hereditary sensory and autonomic, type 1C
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003526322.2
Allele description [Variation Report for NM_004863.4(SPTLC2):c.1448G>T (p.Gly483Val)]
NM_004863.4(SPTLC2):c.1448G>T (p.Gly483Val)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024