NM_001267550.2(TTN):c.29541C>T (p.Phe9847=) AND Early-onset myopathy with fatal cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001132476.12
Allele description [Variation Report for NM_001267550.2(TTN):c.29541C>T (p.Phe9847=)]
NM_001267550.2(TTN):c.29541C>T (p.Phe9847=)
Condition(s)
Assertion and evidence details
Last Updated: Apr 20, 2025