NM_000162.5(GCK):c.635_637del (p.Ser212del) AND Maturity onset diabetes mellitus in young
- Germline classification:
- no classifications from unflagged records (1 submission)
- Last evaluated:
- Jun 6, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002287347.2
Allele description [Variation Report for NM_000162.5(GCK):c.635_637del (p.Ser212del)]
NM_000162.5(GCK):c.635_637del (p.Ser212del)
Condition(s)
- Name:
- Maturity onset diabetes mellitus in young (MODY)
- Synonyms:
- Mason type diabetes
- Identifiers:
- MONDO: MONDO:0018911; MedGen: C0342276; Orphanet: 552; OMIM: 606391; Human Phenotype Ontology: HP:0004904
Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV002577624 | Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic | flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1) | Uncertain significance | unknown | research |
Last Updated: Sep 29, 2024