NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu) AND not specified
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Sep 13, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000040345.16
Allele description [Variation Report for NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu)]
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Nov 24, 2024