NM_001370658.1(BTD):c.41_44del (p.Gly14fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 1, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001090471.16
Allele description
NM_001370658.1(BTD):c.41_44del (p.Gly14fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Mar 10, 2024