NM_000069.3(CACNA1S):c.4543+2T>C AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000994223.18
Allele description
NM_000069.3(CACNA1S):c.4543+2T>C
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Jun 17, 2024