NM_001360.3(DHCR7):c.1396G>A (p.Val466Met) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000255209.5
Allele description [Variation Report for NM_001360.3(DHCR7):c.1396G>A (p.Val466Met)]
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Feb 28, 2024