NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003235371.1
Allele description [Variation Report for NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)]
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: May 7, 2024