NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) AND Early-onset myopathy with fatal cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000332423.13
Allele description [Variation Report for NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)]
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024