NM_058179.4(PSAT1):c.178del (p.Val60fs) AND Neu-Laxova syndrome 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 23, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000702162.4
Allele description [Variation Report for NM_058179.4(PSAT1):c.178del (p.Val60fs)]
NM_058179.4(PSAT1):c.178del (p.Val60fs)
Condition(s)
Assertion and evidence details
Last Updated: Feb 14, 2024