NM_001267550.2(TTN):c.48767dup (p.Glu16257fs) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003817953.2
Allele description [Variation Report for NM_001267550.2(TTN):c.48767dup (p.Glu16257fs)]
NM_001267550.2(TTN):c.48767dup (p.Glu16257fs)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024