NM_004130.4(GYG1):c.143+3G>C AND not provided
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Feb 5, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000387284.20
Allele description [Variation Report for NM_004130.4(GYG1):c.143+3G>C]
NM_004130.4(GYG1):c.143+3G>C
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Sep 29, 2024