NM_000263.4(NAGLU):c.942del (p.Phe314fs) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001532302.16
Allele description
NM_000263.4(NAGLU):c.942del (p.Phe314fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Jun 17, 2024