NM_001287.6(CLCN7):c.739-18G>A AND Autosomal recessive osteopetrosis 4
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 17, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003987835.2
Allele description [Variation Report for NM_001287.6(CLCN7):c.739-18G>A]
NM_001287.6(CLCN7):c.739-18G>A
Condition(s)
Assertion and evidence details
Last Updated: Apr 6, 2024