NM_133642.5(LARGE1):c.2100C>T (p.Asn700=) AND not specified
- Germline classification:
- Benign/Likely benign (7 submissions)
- Last evaluated:
- Oct 30, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000081178.26
Allele description [Variation Report for NM_133642.5(LARGE1):c.2100C>T (p.Asn700=)]
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: May 7, 2024