NM_001849.4(COL6A2):c.2917G>A (p.Val973Met) AND Myosclerosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000328906.5
Allele description [Variation Report for NM_001849.4(COL6A2):c.2917G>A (p.Val973Met)]
NM_001849.4(COL6A2):c.2917G>A (p.Val973Met)
Condition(s)
- Name:
- Myosclerosis
- Synonyms:
- MYOPATHY, MYOSCLEROTIC; MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL; Myosclerosis, autosomal recessive; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009714; MedGen: C1850671; Orphanet: 289380; OMIM: 255600
Assertion and evidence details
Last Updated: Jun 17, 2024