NM_001164508.2(NEB):c.19722A>G (p.Leu6574=) AND Nemaline myopathy 2
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Dec 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000313124.13
Allele description [Variation Report for NM_001164508.2(NEB):c.19722A>G (p.Leu6574=)]
NM_001164508.2(NEB):c.19722A>G (p.Leu6574=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024