NM_172362.3(KCNH1):c.2735A>C (p.His912Pro) AND Temple-Baraitser syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 25, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002273143.2
Allele description [Variation Report for NM_172362.3(KCNH1):c.2735A>C (p.His912Pro)]
NM_172362.3(KCNH1):c.2735A>C (p.His912Pro)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023