NM_000396.4(CTSK):c.400-1G>C AND Pyknodysostosis
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000665773.2
Allele description [Variation Report for NM_000396.4(CTSK):c.400-1G>C]
NM_000396.4(CTSK):c.400-1G>C
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024