NM_000540.3(RYR1):c.11687A>T (p.Asn3896Ile) AND Congenital myopathy with fiber type disproportion
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 5, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000661974.4
Allele description [Variation Report for NM_000540.3(RYR1):c.11687A>T (p.Asn3896Ile)]
NM_000540.3(RYR1):c.11687A>T (p.Asn3896Ile)
Condition(s)
Assertion and evidence details
Last Updated: Jul 29, 2024