NM_000152.5(GAA):c.1047C>T (p.Ser349=) AND not provided
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Oct 15, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000734226.10
Allele description [Variation Report for NM_000152.5(GAA):c.1047C>T (p.Ser349=)]
NM_000152.5(GAA):c.1047C>T (p.Ser349=)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: May 12, 2024