NM_000337.6(SGCD):c.593G>A (p.Arg198Gln) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002485775.1
Allele description [Variation Report for NM_000337.6(SGCD):c.593G>A (p.Arg198Gln)]
NM_000337.6(SGCD):c.593G>A (p.Arg198Gln)
Condition(s)
- Name:
- Dilated cardiomyopathy 1L (CMD1L)
- Identifiers:
- MONDO: MONDO:0011702; MedGen: C1847667; Orphanet: 154; OMIM: 606685
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMDR6)
- Synonyms:
- Limb-girdle muscular dystrophy, type 2F; Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6
- Identifiers:
- MONDO: MONDO:0011028; MedGen: C1832525; Orphanet: 219; OMIM: 601287
Assertion and evidence details
Last Updated: Sep 29, 2024