NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) AND Early-onset myopathy with fatal cardiomyopathy
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Sep 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000408328.8
Allele description [Variation Report for NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala)]
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024