NM_022168.4(IFIH1):c.2914A>C (p.Met972Leu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001877027.6
Allele description [Variation Report for NM_022168.4(IFIH1):c.2914A>C (p.Met972Leu)]
NM_022168.4(IFIH1):c.2914A>C (p.Met972Leu)
Condition(s)
- Name:
- Singleton-Merten syndrome 1 (SGMRT1)
- Synonyms:
- Widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness; Syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition
- Identifiers:
- MONDO: MONDO:0024535; MedGen: C4225427; Orphanet: 85191; OMIM: 182250
Assertion and evidence details
Last Updated: Sep 29, 2024