NM_002473.6(MYH9):c.193G>A (p.Val65Met) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000765636.2
Allele description [Variation Report for NM_002473.6(MYH9):c.193G>A (p.Val65Met)]
NM_002473.6(MYH9):c.193G>A (p.Val65Met)
Condition(s)
- Name:
- Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)
- Synonyms:
- DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS; MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS; BLEEDING DISORDER, PLATELET-TYPE, 6; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015912; MedGen: C5200934; Orphanet: 182050; OMIM: 155100
- Name:
- Autosomal dominant nonsyndromic hearing loss 17
- Synonyms:
- Deafness, autosomal dominant nonsyndromic sensorineural 17; Nonsyndromic hereditary deafness DFNA17; Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011350; MedGen: C1863659; Orphanet: 90635; OMIM: 603622
Assertion and evidence details
Last Updated: Sep 29, 2024