NM_016599.5(MYOZ2):c.566C>T (p.Ala189Val) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 11, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004042336.1
Allele description [Variation Report for NM_016599.5(MYOZ2):c.566C>T (p.Ala189Val)]
NM_016599.5(MYOZ2):c.566C>T (p.Ala189Val)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
Abnormal myelination
Abnormal myelinationMedGen
-
C1857704[conceptid] (1)
MedGen
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 7, 2024