NM_001267550.2(TTN):c.85516C>A (p.Gln28506Lys) 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:
- RCV001132345.5
Allele description [Variation Report for NM_001267550.2(TTN):c.85516C>A (p.Gln28506Lys)]
NM_001267550.2(TTN):c.85516C>A (p.Gln28506Lys)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024