NM_006662.3(SRCAP):c.7864C>T (p.Gln2622Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 6, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002204553.1
Allele description [Variation Report for NM_006662.3(SRCAP):c.7864C>T (p.Gln2622Ter)]
NM_006662.3(SRCAP):c.7864C>T (p.Gln2622Ter)
Condition(s)
Assertion and evidence details
Last Updated: Sep 1, 2024