NM_016615.5(SLC6A13):c.547G>C (p.Val183Leu) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004284220.1
Allele description [Variation Report for NM_016615.5(SLC6A13):c.547G>C (p.Val183Leu)]
NM_016615.5(SLC6A13):c.547G>C (p.Val183Leu)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Sep 8, 2024