NM_001003800.2(BICD2):c.1556G>T (p.Ser519Ile) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003343890.2
Allele description [Variation Report for NM_001003800.2(BICD2):c.1556G>T (p.Ser519Ile)]
NM_001003800.2(BICD2):c.1556G>T (p.Ser519Ile)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: May 1, 2024