NM_133642.5(LARGE1):c.1611G>A (p.Glu537=) AND not provided
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Aug 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000726777.12
Allele description
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Apr 15, 2024