NM_000298.6(PKLR):c.1518C>T (p.Val506=) AND PKLR-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 9, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003927061.1
Allele description [Variation Report for NM_000298.6(PKLR):c.1518C>T (p.Val506=)]
NM_000298.6(PKLR):c.1518C>T (p.Val506=)
Condition(s)
- Name:
- PKLR-related disorder
- Synonyms:
- PKLR-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 19, 2024