NM_014738.6(TMEM94):c.2605dup (p.Met869fs) AND TMEM94-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 16, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000735206.2
Allele description [Variation Report for NM_014738.6(TMEM94):c.2605dup (p.Met869fs)]
NM_014738.6(TMEM94):c.2605dup (p.Met869fs)
Condition(s)
- Name:
- TMEM94-related disorder
- Synonyms:
- TMEM94-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 19, 2024