NM_138691.3(TMC1):c.2068G>A (p.Ala690Thr) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 14, 2010
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000041137.5
Allele description [Variation Report for NM_138691.3(TMC1):c.2068G>A (p.Ala690Thr)]
NM_138691.3(TMC1):c.2068G>A (p.Ala690Thr)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Jul 16, 2023