NM_001267550.2(TTN):c.25196T>C (p.Leu8399Pro) AND Early-onset myopathy with fatal cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 6, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001132965.4
Allele description [Variation Report for NM_001267550.2(TTN):c.25196T>C (p.Leu8399Pro)]
NM_001267550.2(TTN):c.25196T>C (p.Leu8399Pro)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023