NM_002528.7(NTHL1):c.139G>A (p.Val47Met) AND NTHL1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003947993.2
Allele description [Variation Report for NM_002528.7(NTHL1):c.139G>A (p.Val47Met)]
NM_002528.7(NTHL1):c.139G>A (p.Val47Met)
Condition(s)
- Name:
- NTHL1-related disorder
- Synonyms:
- NTHL1-related condition; NTHL1-related conditions
- Identifiers:
Assertion and evidence details
Last Updated: Oct 13, 2024